Clinical features of spinal muscular atrophy (SMA) type 3 (Kugelberg-Welander disease)
Spinal muscular atrophy type 3 (SMA3), also called Kugelberg-Welander SMA, typically presents with muscle fatigue, slowly progressive weakness and atrophy of lower limbs once they have already acquired independent ambulation. Visceral involvement frequent in type 1 and 2 subtypes is rare in SMA3. Hy...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Salort-Campana, E. [verfasserIn] |
|---|
| Format: |
E-Artikel |
|---|---|
| Sprache: |
Englisch |
| Erschienen: |
2020transfer abstract |
|---|
| Schlagwörter: |
Type 3 spinal muscular atrophy |
|---|
| Umfang: |
6 |
|---|
| Übergeordnetes Werk: |
Enthalten in: Archives de pédiatrie - Cui, Yuqiong ELSEVIER, 2021, Amsterdam [u.a.] |
|---|---|
| Übergeordnetes Werk: |
volume:27 ; year:2020 ; number:7 ; pages:723-728 ; extent:6 |
| Links: |
|---|
| DOI / URN: |
10.1016/S0929-693X(20)30273-6 |
|---|
| Katalog-ID: |
ELV052525422 |
|---|
| LEADER | 01000caa a22002652 4500 | ||
|---|---|---|---|
| 001 | ELV052525422 | ||
| 003 | DE-627 | ||
| 005 | 20230626033407.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 210910s2020 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1016/S0929-693X(20)30273-6 |2 doi | |
| 028 | 5 | 2 | |a /cbs_pica/cbs_olc/import_discovery/elsevier/einzuspielen/GBV00000000001242.pica |
| 035 | |a (DE-627)ELV052525422 | ||
| 035 | |a (ELSEVIER)S0929-693X(20)30273-6 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rakwb | ||
| 041 | |a eng | ||
| 082 | 0 | 4 | |a 540 |a 530 |q VZ |
| 084 | |a 33.00 |2 bkl | ||
| 100 | 1 | |a Salort-Campana, E. |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a Clinical features of spinal muscular atrophy (SMA) type 3 (Kugelberg-Welander disease) |
| 264 | 1 | |c 2020transfer abstract | |
| 300 | |a 6 | ||
| 336 | |a nicht spezifiziert |b zzz |2 rdacontent | ||
| 337 | |a nicht spezifiziert |b z |2 rdamedia | ||
| 338 | |a nicht spezifiziert |b zu |2 rdacarrier | ||
| 520 | |a Spinal muscular atrophy type 3 (SMA3), also called Kugelberg-Welander SMA, typically presents with muscle fatigue, slowly progressive weakness and atrophy of lower limbs once they have already acquired independent ambulation. Visceral involvement frequent in type 1 and 2 subtypes is rare in SMA3. Hypotonia, hyperlaxity and absent osteo-tendinous reflexes are typical features. By definition, standing or walking without support is achieved but the vast majority of SMA3 patients lose ambulation with time. Lifespan is normal. In some classifications, an additional subtype is included in the mild end of the spectrum, namely spinal muscular atrophy type 4 (SMA4). In this rare subtype, symptoms begin in adulthood; patients remain ambulatory at least until the fifth decade and have a normal respiratory function. Molecular genetic testing is the gold standard tool for diagnosis of SMA. However, diagnosis in a child affected with SMA3 is often challenging because clinical presentation mimics a muscular dystrophy. Electrodiagnostic studies and muscle biopsy are useful tools for demonstrating the presence of denervation but sometimes may not show meaningful differences to help distinguish between SMA and myopathy. Recent specific therapies show promising results before severe neuronal degeneration and motor dysfunction is installed. Therefore, high suspicion should be maintained and genetic analysis performed early in the diagnostic process when facing patients with symmetric and prominent proximal weakness, especially if they present progressive motor impairment. | ||
| 520 | |a Spinal muscular atrophy type 3 (SMA3), also called Kugelberg-Welander SMA, typically presents with muscle fatigue, slowly progressive weakness and atrophy of lower limbs once they have already acquired independent ambulation. Visceral involvement frequent in type 1 and 2 subtypes is rare in SMA3. Hypotonia, hyperlaxity and absent osteo-tendinous reflexes are typical features. By definition, standing or walking without support is achieved but the vast majority of SMA3 patients lose ambulation with time. Lifespan is normal. In some classifications, an additional subtype is included in the mild end of the spectrum, namely spinal muscular atrophy type 4 (SMA4). In this rare subtype, symptoms begin in adulthood; patients remain ambulatory at least until the fifth decade and have a normal respiratory function. Molecular genetic testing is the gold standard tool for diagnosis of SMA. However, diagnosis in a child affected with SMA3 is often challenging because clinical presentation mimics a muscular dystrophy. Electrodiagnostic studies and muscle biopsy are useful tools for demonstrating the presence of denervation but sometimes may not show meaningful differences to help distinguish between SMA and myopathy. Recent specific therapies show promising results before severe neuronal degeneration and motor dysfunction is installed. Therefore, high suspicion should be maintained and genetic analysis performed early in the diagnostic process when facing patients with symmetric and prominent proximal weakness, especially if they present progressive motor impairment. | ||
| 650 | 7 | |a Type 3 spinal muscular atrophy |2 Elsevier | |
| 650 | 7 | |a Type 4 spinal muscular atrophy |2 Elsevier | |
| 650 | 7 | |a SMA |2 Elsevier | |
| 650 | 7 | |a Diagnosis |2 Elsevier | |
| 650 | 7 | |a Electrodiagnostic studies |2 Elsevier | |
| 650 | 7 | |a Muscle biopsy |2 Elsevier | |
| 700 | 1 | |a Quijano-Roy, S. |4 oth | |
| 773 | 0 | 8 | |i Enthalten in |n Elsevier |a Cui, Yuqiong ELSEVIER |t Archives de pédiatrie |d 2021 |g Amsterdam [u.a.] |w (DE-627)ELV006498205 |
| 773 | 1 | 8 | |g volume:27 |g year:2020 |g number:7 |g pages:723-728 |g extent:6 |
| 856 | 4 | 0 | |u https://doi.org/10.1016/S0929-693X(20)30273-6 |3 Volltext |
| 912 | |a GBV_USEFLAG_U | ||
| 912 | |a GBV_ELV | ||
| 912 | |a SYSFLAG_U | ||
| 936 | b | k | |a 33.00 |j Physik: Allgemeines |q VZ |
| 951 | |a AR | ||
| 952 | |d 27 |j 2020 |e 7 |h 723-728 |g 6 |y 27.2020, 7, 7S23-, (6 S.) | ||
| author_variant |
e s c esc |
|---|---|
| matchkey_str |
salortcampanaequijanoroys:2020----:lncletrsfpnluclrtohsayekg |
| hierarchy_sort_str |
2020transfer abstract |
| bklnumber |
33.00 |
| publishDate |
2020 |
| allfields |
10.1016/S0929-693X(20)30273-6 doi /cbs_pica/cbs_olc/import_discovery/elsevier/einzuspielen/GBV00000000001242.pica (DE-627)ELV052525422 (ELSEVIER)S0929-693X(20)30273-6 DE-627 ger DE-627 rakwb eng 540 530 VZ 33.00 bkl Salort-Campana, E. verfasserin aut Clinical features of spinal muscular atrophy (SMA) type 3 (Kugelberg-Welander disease) 2020transfer abstract 6 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Spinal muscular atrophy type 3 (SMA3), also called Kugelberg-Welander SMA, typically presents with muscle fatigue, slowly progressive weakness and atrophy of lower limbs once they have already acquired independent ambulation. Visceral involvement frequent in type 1 and 2 subtypes is rare in SMA3. Hypotonia, hyperlaxity and absent osteo-tendinous reflexes are typical features. By definition, standing or walking without support is achieved but the vast majority of SMA3 patients lose ambulation with time. Lifespan is normal. In some classifications, an additional subtype is included in the mild end of the spectrum, namely spinal muscular atrophy type 4 (SMA4). In this rare subtype, symptoms begin in adulthood; patients remain ambulatory at least until the fifth decade and have a normal respiratory function. Molecular genetic testing is the gold standard tool for diagnosis of SMA. However, diagnosis in a child affected with SMA3 is often challenging because clinical presentation mimics a muscular dystrophy. Electrodiagnostic studies and muscle biopsy are useful tools for demonstrating the presence of denervation but sometimes may not show meaningful differences to help distinguish between SMA and myopathy. Recent specific therapies show promising results before severe neuronal degeneration and motor dysfunction is installed. Therefore, high suspicion should be maintained and genetic analysis performed early in the diagnostic process when facing patients with symmetric and prominent proximal weakness, especially if they present progressive motor impairment. Spinal muscular atrophy type 3 (SMA3), also called Kugelberg-Welander SMA, typically presents with muscle fatigue, slowly progressive weakness and atrophy of lower limbs once they have already acquired independent ambulation. Visceral involvement frequent in type 1 and 2 subtypes is rare in SMA3. Hypotonia, hyperlaxity and absent osteo-tendinous reflexes are typical features. By definition, standing or walking without support is achieved but the vast majority of SMA3 patients lose ambulation with time. Lifespan is normal. In some classifications, an additional subtype is included in the mild end of the spectrum, namely spinal muscular atrophy type 4 (SMA4). In this rare subtype, symptoms begin in adulthood; patients remain ambulatory at least until the fifth decade and have a normal respiratory function. Molecular genetic testing is the gold standard tool for diagnosis of SMA. However, diagnosis in a child affected with SMA3 is often challenging because clinical presentation mimics a muscular dystrophy. Electrodiagnostic studies and muscle biopsy are useful tools for demonstrating the presence of denervation but sometimes may not show meaningful differences to help distinguish between SMA and myopathy. Recent specific therapies show promising results before severe neuronal degeneration and motor dysfunction is installed. Therefore, high suspicion should be maintained and genetic analysis performed early in the diagnostic process when facing patients with symmetric and prominent proximal weakness, especially if they present progressive motor impairment. Type 3 spinal muscular atrophy Elsevier Type 4 spinal muscular atrophy Elsevier SMA Elsevier Diagnosis Elsevier Electrodiagnostic studies Elsevier Muscle biopsy Elsevier Quijano-Roy, S. oth Enthalten in Elsevier Cui, Yuqiong ELSEVIER Archives de pédiatrie 2021 Amsterdam [u.a.] (DE-627)ELV006498205 volume:27 year:2020 number:7 pages:723-728 extent:6 https://doi.org/10.1016/S0929-693X(20)30273-6 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U 33.00 Physik: Allgemeines VZ AR 27 2020 7 723-728 6 27.2020, 7, 7S23-, (6 S.) |
| spelling |
10.1016/S0929-693X(20)30273-6 doi /cbs_pica/cbs_olc/import_discovery/elsevier/einzuspielen/GBV00000000001242.pica (DE-627)ELV052525422 (ELSEVIER)S0929-693X(20)30273-6 DE-627 ger DE-627 rakwb eng 540 530 VZ 33.00 bkl Salort-Campana, E. verfasserin aut Clinical features of spinal muscular atrophy (SMA) type 3 (Kugelberg-Welander disease) 2020transfer abstract 6 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Spinal muscular atrophy type 3 (SMA3), also called Kugelberg-Welander SMA, typically presents with muscle fatigue, slowly progressive weakness and atrophy of lower limbs once they have already acquired independent ambulation. Visceral involvement frequent in type 1 and 2 subtypes is rare in SMA3. Hypotonia, hyperlaxity and absent osteo-tendinous reflexes are typical features. By definition, standing or walking without support is achieved but the vast majority of SMA3 patients lose ambulation with time. Lifespan is normal. In some classifications, an additional subtype is included in the mild end of the spectrum, namely spinal muscular atrophy type 4 (SMA4). In this rare subtype, symptoms begin in adulthood; patients remain ambulatory at least until the fifth decade and have a normal respiratory function. Molecular genetic testing is the gold standard tool for diagnosis of SMA. However, diagnosis in a child affected with SMA3 is often challenging because clinical presentation mimics a muscular dystrophy. Electrodiagnostic studies and muscle biopsy are useful tools for demonstrating the presence of denervation but sometimes may not show meaningful differences to help distinguish between SMA and myopathy. Recent specific therapies show promising results before severe neuronal degeneration and motor dysfunction is installed. Therefore, high suspicion should be maintained and genetic analysis performed early in the diagnostic process when facing patients with symmetric and prominent proximal weakness, especially if they present progressive motor impairment. Spinal muscular atrophy type 3 (SMA3), also called Kugelberg-Welander SMA, typically presents with muscle fatigue, slowly progressive weakness and atrophy of lower limbs once they have already acquired independent ambulation. Visceral involvement frequent in type 1 and 2 subtypes is rare in SMA3. Hypotonia, hyperlaxity and absent osteo-tendinous reflexes are typical features. By definition, standing or walking without support is achieved but the vast majority of SMA3 patients lose ambulation with time. Lifespan is normal. In some classifications, an additional subtype is included in the mild end of the spectrum, namely spinal muscular atrophy type 4 (SMA4). In this rare subtype, symptoms begin in adulthood; patients remain ambulatory at least until the fifth decade and have a normal respiratory function. Molecular genetic testing is the gold standard tool for diagnosis of SMA. However, diagnosis in a child affected with SMA3 is often challenging because clinical presentation mimics a muscular dystrophy. Electrodiagnostic studies and muscle biopsy are useful tools for demonstrating the presence of denervation but sometimes may not show meaningful differences to help distinguish between SMA and myopathy. Recent specific therapies show promising results before severe neuronal degeneration and motor dysfunction is installed. Therefore, high suspicion should be maintained and genetic analysis performed early in the diagnostic process when facing patients with symmetric and prominent proximal weakness, especially if they present progressive motor impairment. Type 3 spinal muscular atrophy Elsevier Type 4 spinal muscular atrophy Elsevier SMA Elsevier Diagnosis Elsevier Electrodiagnostic studies Elsevier Muscle biopsy Elsevier Quijano-Roy, S. oth Enthalten in Elsevier Cui, Yuqiong ELSEVIER Archives de pédiatrie 2021 Amsterdam [u.a.] (DE-627)ELV006498205 volume:27 year:2020 number:7 pages:723-728 extent:6 https://doi.org/10.1016/S0929-693X(20)30273-6 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U 33.00 Physik: Allgemeines VZ AR 27 2020 7 723-728 6 27.2020, 7, 7S23-, (6 S.) |
| allfields_unstemmed |
10.1016/S0929-693X(20)30273-6 doi /cbs_pica/cbs_olc/import_discovery/elsevier/einzuspielen/GBV00000000001242.pica (DE-627)ELV052525422 (ELSEVIER)S0929-693X(20)30273-6 DE-627 ger DE-627 rakwb eng 540 530 VZ 33.00 bkl Salort-Campana, E. verfasserin aut Clinical features of spinal muscular atrophy (SMA) type 3 (Kugelberg-Welander disease) 2020transfer abstract 6 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Spinal muscular atrophy type 3 (SMA3), also called Kugelberg-Welander SMA, typically presents with muscle fatigue, slowly progressive weakness and atrophy of lower limbs once they have already acquired independent ambulation. Visceral involvement frequent in type 1 and 2 subtypes is rare in SMA3. Hypotonia, hyperlaxity and absent osteo-tendinous reflexes are typical features. By definition, standing or walking without support is achieved but the vast majority of SMA3 patients lose ambulation with time. Lifespan is normal. In some classifications, an additional subtype is included in the mild end of the spectrum, namely spinal muscular atrophy type 4 (SMA4). In this rare subtype, symptoms begin in adulthood; patients remain ambulatory at least until the fifth decade and have a normal respiratory function. Molecular genetic testing is the gold standard tool for diagnosis of SMA. However, diagnosis in a child affected with SMA3 is often challenging because clinical presentation mimics a muscular dystrophy. Electrodiagnostic studies and muscle biopsy are useful tools for demonstrating the presence of denervation but sometimes may not show meaningful differences to help distinguish between SMA and myopathy. Recent specific therapies show promising results before severe neuronal degeneration and motor dysfunction is installed. Therefore, high suspicion should be maintained and genetic analysis performed early in the diagnostic process when facing patients with symmetric and prominent proximal weakness, especially if they present progressive motor impairment. Spinal muscular atrophy type 3 (SMA3), also called Kugelberg-Welander SMA, typically presents with muscle fatigue, slowly progressive weakness and atrophy of lower limbs once they have already acquired independent ambulation. Visceral involvement frequent in type 1 and 2 subtypes is rare in SMA3. Hypotonia, hyperlaxity and absent osteo-tendinous reflexes are typical features. By definition, standing or walking without support is achieved but the vast majority of SMA3 patients lose ambulation with time. Lifespan is normal. In some classifications, an additional subtype is included in the mild end of the spectrum, namely spinal muscular atrophy type 4 (SMA4). In this rare subtype, symptoms begin in adulthood; patients remain ambulatory at least until the fifth decade and have a normal respiratory function. Molecular genetic testing is the gold standard tool for diagnosis of SMA. However, diagnosis in a child affected with SMA3 is often challenging because clinical presentation mimics a muscular dystrophy. Electrodiagnostic studies and muscle biopsy are useful tools for demonstrating the presence of denervation but sometimes may not show meaningful differences to help distinguish between SMA and myopathy. Recent specific therapies show promising results before severe neuronal degeneration and motor dysfunction is installed. Therefore, high suspicion should be maintained and genetic analysis performed early in the diagnostic process when facing patients with symmetric and prominent proximal weakness, especially if they present progressive motor impairment. Type 3 spinal muscular atrophy Elsevier Type 4 spinal muscular atrophy Elsevier SMA Elsevier Diagnosis Elsevier Electrodiagnostic studies Elsevier Muscle biopsy Elsevier Quijano-Roy, S. oth Enthalten in Elsevier Cui, Yuqiong ELSEVIER Archives de pédiatrie 2021 Amsterdam [u.a.] (DE-627)ELV006498205 volume:27 year:2020 number:7 pages:723-728 extent:6 https://doi.org/10.1016/S0929-693X(20)30273-6 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U 33.00 Physik: Allgemeines VZ AR 27 2020 7 723-728 6 27.2020, 7, 7S23-, (6 S.) |
| allfieldsGer |
10.1016/S0929-693X(20)30273-6 doi /cbs_pica/cbs_olc/import_discovery/elsevier/einzuspielen/GBV00000000001242.pica (DE-627)ELV052525422 (ELSEVIER)S0929-693X(20)30273-6 DE-627 ger DE-627 rakwb eng 540 530 VZ 33.00 bkl Salort-Campana, E. verfasserin aut Clinical features of spinal muscular atrophy (SMA) type 3 (Kugelberg-Welander disease) 2020transfer abstract 6 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Spinal muscular atrophy type 3 (SMA3), also called Kugelberg-Welander SMA, typically presents with muscle fatigue, slowly progressive weakness and atrophy of lower limbs once they have already acquired independent ambulation. Visceral involvement frequent in type 1 and 2 subtypes is rare in SMA3. Hypotonia, hyperlaxity and absent osteo-tendinous reflexes are typical features. By definition, standing or walking without support is achieved but the vast majority of SMA3 patients lose ambulation with time. Lifespan is normal. In some classifications, an additional subtype is included in the mild end of the spectrum, namely spinal muscular atrophy type 4 (SMA4). In this rare subtype, symptoms begin in adulthood; patients remain ambulatory at least until the fifth decade and have a normal respiratory function. Molecular genetic testing is the gold standard tool for diagnosis of SMA. However, diagnosis in a child affected with SMA3 is often challenging because clinical presentation mimics a muscular dystrophy. Electrodiagnostic studies and muscle biopsy are useful tools for demonstrating the presence of denervation but sometimes may not show meaningful differences to help distinguish between SMA and myopathy. Recent specific therapies show promising results before severe neuronal degeneration and motor dysfunction is installed. Therefore, high suspicion should be maintained and genetic analysis performed early in the diagnostic process when facing patients with symmetric and prominent proximal weakness, especially if they present progressive motor impairment. Spinal muscular atrophy type 3 (SMA3), also called Kugelberg-Welander SMA, typically presents with muscle fatigue, slowly progressive weakness and atrophy of lower limbs once they have already acquired independent ambulation. Visceral involvement frequent in type 1 and 2 subtypes is rare in SMA3. Hypotonia, hyperlaxity and absent osteo-tendinous reflexes are typical features. By definition, standing or walking without support is achieved but the vast majority of SMA3 patients lose ambulation with time. Lifespan is normal. In some classifications, an additional subtype is included in the mild end of the spectrum, namely spinal muscular atrophy type 4 (SMA4). In this rare subtype, symptoms begin in adulthood; patients remain ambulatory at least until the fifth decade and have a normal respiratory function. Molecular genetic testing is the gold standard tool for diagnosis of SMA. However, diagnosis in a child affected with SMA3 is often challenging because clinical presentation mimics a muscular dystrophy. Electrodiagnostic studies and muscle biopsy are useful tools for demonstrating the presence of denervation but sometimes may not show meaningful differences to help distinguish between SMA and myopathy. Recent specific therapies show promising results before severe neuronal degeneration and motor dysfunction is installed. Therefore, high suspicion should be maintained and genetic analysis performed early in the diagnostic process when facing patients with symmetric and prominent proximal weakness, especially if they present progressive motor impairment. Type 3 spinal muscular atrophy Elsevier Type 4 spinal muscular atrophy Elsevier SMA Elsevier Diagnosis Elsevier Electrodiagnostic studies Elsevier Muscle biopsy Elsevier Quijano-Roy, S. oth Enthalten in Elsevier Cui, Yuqiong ELSEVIER Archives de pédiatrie 2021 Amsterdam [u.a.] (DE-627)ELV006498205 volume:27 year:2020 number:7 pages:723-728 extent:6 https://doi.org/10.1016/S0929-693X(20)30273-6 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U 33.00 Physik: Allgemeines VZ AR 27 2020 7 723-728 6 27.2020, 7, 7S23-, (6 S.) |
| allfieldsSound |
10.1016/S0929-693X(20)30273-6 doi /cbs_pica/cbs_olc/import_discovery/elsevier/einzuspielen/GBV00000000001242.pica (DE-627)ELV052525422 (ELSEVIER)S0929-693X(20)30273-6 DE-627 ger DE-627 rakwb eng 540 530 VZ 33.00 bkl Salort-Campana, E. verfasserin aut Clinical features of spinal muscular atrophy (SMA) type 3 (Kugelberg-Welander disease) 2020transfer abstract 6 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Spinal muscular atrophy type 3 (SMA3), also called Kugelberg-Welander SMA, typically presents with muscle fatigue, slowly progressive weakness and atrophy of lower limbs once they have already acquired independent ambulation. Visceral involvement frequent in type 1 and 2 subtypes is rare in SMA3. Hypotonia, hyperlaxity and absent osteo-tendinous reflexes are typical features. By definition, standing or walking without support is achieved but the vast majority of SMA3 patients lose ambulation with time. Lifespan is normal. In some classifications, an additional subtype is included in the mild end of the spectrum, namely spinal muscular atrophy type 4 (SMA4). In this rare subtype, symptoms begin in adulthood; patients remain ambulatory at least until the fifth decade and have a normal respiratory function. Molecular genetic testing is the gold standard tool for diagnosis of SMA. However, diagnosis in a child affected with SMA3 is often challenging because clinical presentation mimics a muscular dystrophy. Electrodiagnostic studies and muscle biopsy are useful tools for demonstrating the presence of denervation but sometimes may not show meaningful differences to help distinguish between SMA and myopathy. Recent specific therapies show promising results before severe neuronal degeneration and motor dysfunction is installed. Therefore, high suspicion should be maintained and genetic analysis performed early in the diagnostic process when facing patients with symmetric and prominent proximal weakness, especially if they present progressive motor impairment. Spinal muscular atrophy type 3 (SMA3), also called Kugelberg-Welander SMA, typically presents with muscle fatigue, slowly progressive weakness and atrophy of lower limbs once they have already acquired independent ambulation. Visceral involvement frequent in type 1 and 2 subtypes is rare in SMA3. Hypotonia, hyperlaxity and absent osteo-tendinous reflexes are typical features. By definition, standing or walking without support is achieved but the vast majority of SMA3 patients lose ambulation with time. Lifespan is normal. In some classifications, an additional subtype is included in the mild end of the spectrum, namely spinal muscular atrophy type 4 (SMA4). In this rare subtype, symptoms begin in adulthood; patients remain ambulatory at least until the fifth decade and have a normal respiratory function. Molecular genetic testing is the gold standard tool for diagnosis of SMA. However, diagnosis in a child affected with SMA3 is often challenging because clinical presentation mimics a muscular dystrophy. Electrodiagnostic studies and muscle biopsy are useful tools for demonstrating the presence of denervation but sometimes may not show meaningful differences to help distinguish between SMA and myopathy. Recent specific therapies show promising results before severe neuronal degeneration and motor dysfunction is installed. Therefore, high suspicion should be maintained and genetic analysis performed early in the diagnostic process when facing patients with symmetric and prominent proximal weakness, especially if they present progressive motor impairment. Type 3 spinal muscular atrophy Elsevier Type 4 spinal muscular atrophy Elsevier SMA Elsevier Diagnosis Elsevier Electrodiagnostic studies Elsevier Muscle biopsy Elsevier Quijano-Roy, S. oth Enthalten in Elsevier Cui, Yuqiong ELSEVIER Archives de pédiatrie 2021 Amsterdam [u.a.] (DE-627)ELV006498205 volume:27 year:2020 number:7 pages:723-728 extent:6 https://doi.org/10.1016/S0929-693X(20)30273-6 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U 33.00 Physik: Allgemeines VZ AR 27 2020 7 723-728 6 27.2020, 7, 7S23-, (6 S.) |
| language |
English |
| source |
Enthalten in Archives de pédiatrie Amsterdam [u.a.] volume:27 year:2020 number:7 pages:723-728 extent:6 |
| sourceStr |
Enthalten in Archives de pédiatrie Amsterdam [u.a.] volume:27 year:2020 number:7 pages:723-728 extent:6 |
| format_phy_str_mv |
Article |
| bklname |
Physik: Allgemeines |
| institution |
findex.gbv.de |
| topic_facet |
Type 3 spinal muscular atrophy Type 4 spinal muscular atrophy SMA Diagnosis Electrodiagnostic studies Muscle biopsy |
| dewey-raw |
540 |
| isfreeaccess_bool |
false |
| container_title |
Archives de pédiatrie |
| authorswithroles_txt_mv |
Salort-Campana, E. @@aut@@ Quijano-Roy, S. @@oth@@ |
| publishDateDaySort_date |
2020-01-01T00:00:00Z |
| hierarchy_top_id |
ELV006498205 |
| dewey-sort |
3540 |
| id |
ELV052525422 |
| language_de |
englisch |
| fullrecord |
<?xml version="1.0" encoding="UTF-8"?><collection xmlns="http://www.loc.gov/MARC21/slim"><record><leader>01000caa a22002652 4500</leader><controlfield tag="001">ELV052525422</controlfield><controlfield tag="003">DE-627</controlfield><controlfield tag="005">20230626033407.0</controlfield><controlfield tag="007">cr uuu---uuuuu</controlfield><controlfield tag="008">210910s2020 xx |||||o 00| ||eng c</controlfield><datafield tag="024" ind1="7" ind2=" "><subfield code="a">10.1016/S0929-693X(20)30273-6</subfield><subfield code="2">doi</subfield></datafield><datafield tag="028" ind1="5" ind2="2"><subfield code="a">/cbs_pica/cbs_olc/import_discovery/elsevier/einzuspielen/GBV00000000001242.pica</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-627)ELV052525422</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(ELSEVIER)S0929-693X(20)30273-6</subfield></datafield><datafield tag="040" ind1=" " ind2=" "><subfield code="a">DE-627</subfield><subfield code="b">ger</subfield><subfield code="c">DE-627</subfield><subfield code="e">rakwb</subfield></datafield><datafield tag="041" ind1=" " ind2=" "><subfield code="a">eng</subfield></datafield><datafield tag="082" ind1="0" ind2="4"><subfield code="a">540</subfield><subfield code="a">530</subfield><subfield code="q">VZ</subfield></datafield><datafield tag="084" ind1=" " ind2=" "><subfield code="a">33.00</subfield><subfield code="2">bkl</subfield></datafield><datafield tag="100" ind1="1" ind2=" "><subfield code="a">Salort-Campana, E.</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="245" ind1="1" ind2="0"><subfield code="a">Clinical features of spinal muscular atrophy (SMA) type 3 (Kugelberg-Welander disease)</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="c">2020transfer abstract</subfield></datafield><datafield tag="300" ind1=" " ind2=" "><subfield code="a">6</subfield></datafield><datafield tag="336" ind1=" " ind2=" "><subfield code="a">nicht spezifiziert</subfield><subfield code="b">zzz</subfield><subfield code="2">rdacontent</subfield></datafield><datafield tag="337" ind1=" " ind2=" "><subfield code="a">nicht spezifiziert</subfield><subfield code="b">z</subfield><subfield code="2">rdamedia</subfield></datafield><datafield tag="338" ind1=" " ind2=" "><subfield code="a">nicht spezifiziert</subfield><subfield code="b">zu</subfield><subfield code="2">rdacarrier</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="a">Spinal muscular atrophy type 3 (SMA3), also called Kugelberg-Welander SMA, typically presents with muscle fatigue, slowly progressive weakness and atrophy of lower limbs once they have already acquired independent ambulation. Visceral involvement frequent in type 1 and 2 subtypes is rare in SMA3. Hypotonia, hyperlaxity and absent osteo-tendinous reflexes are typical features. By definition, standing or walking without support is achieved but the vast majority of SMA3 patients lose ambulation with time. Lifespan is normal. In some classifications, an additional subtype is included in the mild end of the spectrum, namely spinal muscular atrophy type 4 (SMA4). In this rare subtype, symptoms begin in adulthood; patients remain ambulatory at least until the fifth decade and have a normal respiratory function. Molecular genetic testing is the gold standard tool for diagnosis of SMA. However, diagnosis in a child affected with SMA3 is often challenging because clinical presentation mimics a muscular dystrophy. Electrodiagnostic studies and muscle biopsy are useful tools for demonstrating the presence of denervation but sometimes may not show meaningful differences to help distinguish between SMA and myopathy. Recent specific therapies show promising results before severe neuronal degeneration and motor dysfunction is installed. Therefore, high suspicion should be maintained and genetic analysis performed early in the diagnostic process when facing patients with symmetric and prominent proximal weakness, especially if they present progressive motor impairment.</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="a">Spinal muscular atrophy type 3 (SMA3), also called Kugelberg-Welander SMA, typically presents with muscle fatigue, slowly progressive weakness and atrophy of lower limbs once they have already acquired independent ambulation. Visceral involvement frequent in type 1 and 2 subtypes is rare in SMA3. Hypotonia, hyperlaxity and absent osteo-tendinous reflexes are typical features. By definition, standing or walking without support is achieved but the vast majority of SMA3 patients lose ambulation with time. Lifespan is normal. In some classifications, an additional subtype is included in the mild end of the spectrum, namely spinal muscular atrophy type 4 (SMA4). In this rare subtype, symptoms begin in adulthood; patients remain ambulatory at least until the fifth decade and have a normal respiratory function. Molecular genetic testing is the gold standard tool for diagnosis of SMA. However, diagnosis in a child affected with SMA3 is often challenging because clinical presentation mimics a muscular dystrophy. Electrodiagnostic studies and muscle biopsy are useful tools for demonstrating the presence of denervation but sometimes may not show meaningful differences to help distinguish between SMA and myopathy. Recent specific therapies show promising results before severe neuronal degeneration and motor dysfunction is installed. Therefore, high suspicion should be maintained and genetic analysis performed early in the diagnostic process when facing patients with symmetric and prominent proximal weakness, especially if they present progressive motor impairment.</subfield></datafield><datafield tag="650" ind1=" " ind2="7"><subfield code="a">Type 3 spinal muscular atrophy</subfield><subfield code="2">Elsevier</subfield></datafield><datafield tag="650" ind1=" " ind2="7"><subfield code="a">Type 4 spinal muscular atrophy</subfield><subfield code="2">Elsevier</subfield></datafield><datafield tag="650" ind1=" " ind2="7"><subfield code="a">SMA</subfield><subfield code="2">Elsevier</subfield></datafield><datafield tag="650" ind1=" " ind2="7"><subfield code="a">Diagnosis</subfield><subfield code="2">Elsevier</subfield></datafield><datafield tag="650" ind1=" " ind2="7"><subfield code="a">Electrodiagnostic studies</subfield><subfield code="2">Elsevier</subfield></datafield><datafield tag="650" ind1=" " ind2="7"><subfield code="a">Muscle biopsy</subfield><subfield code="2">Elsevier</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Quijano-Roy, S.</subfield><subfield code="4">oth</subfield></datafield><datafield tag="773" ind1="0" ind2="8"><subfield code="i">Enthalten in</subfield><subfield code="n">Elsevier</subfield><subfield code="a">Cui, Yuqiong ELSEVIER</subfield><subfield code="t">Archives de pédiatrie</subfield><subfield code="d">2021</subfield><subfield code="g">Amsterdam [u.a.]</subfield><subfield code="w">(DE-627)ELV006498205</subfield></datafield><datafield tag="773" ind1="1" ind2="8"><subfield code="g">volume:27</subfield><subfield code="g">year:2020</subfield><subfield code="g">number:7</subfield><subfield code="g">pages:723-728</subfield><subfield code="g">extent:6</subfield></datafield><datafield tag="856" ind1="4" ind2="0"><subfield code="u">https://doi.org/10.1016/S0929-693X(20)30273-6</subfield><subfield code="3">Volltext</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_USEFLAG_U</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ELV</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">SYSFLAG_U</subfield></datafield><datafield tag="936" ind1="b" ind2="k"><subfield code="a">33.00</subfield><subfield code="j">Physik: Allgemeines</subfield><subfield code="q">VZ</subfield></datafield><datafield tag="951" ind1=" " ind2=" "><subfield code="a">AR</subfield></datafield><datafield tag="952" ind1=" " ind2=" "><subfield code="d">27</subfield><subfield code="j">2020</subfield><subfield code="e">7</subfield><subfield code="h">723-728</subfield><subfield code="g">6</subfield><subfield code="y">27.2020, 7, 7S23-, (6 S.)</subfield></datafield></record></collection>
|
| author |
Salort-Campana, E. |
| spellingShingle |
Salort-Campana, E. ddc 540 bkl 33.00 Elsevier Type 3 spinal muscular atrophy Elsevier Type 4 spinal muscular atrophy Elsevier SMA Elsevier Diagnosis Elsevier Electrodiagnostic studies Elsevier Muscle biopsy Clinical features of spinal muscular atrophy (SMA) type 3 (Kugelberg-Welander disease) |
| authorStr |
Salort-Campana, E. |
| ppnlink_with_tag_str_mv |
@@773@@(DE-627)ELV006498205 |
| format |
electronic Article |
| dewey-ones |
540 - Chemistry & allied sciences 530 - Physics |
| delete_txt_mv |
keep |
| author_role |
aut |
| collection |
elsevier |
| remote_str |
true |
| illustrated |
Not Illustrated |
| topic_title |
540 530 VZ 33.00 bkl Clinical features of spinal muscular atrophy (SMA) type 3 (Kugelberg-Welander disease) Type 3 spinal muscular atrophy Elsevier Type 4 spinal muscular atrophy Elsevier SMA Elsevier Diagnosis Elsevier Electrodiagnostic studies Elsevier Muscle biopsy Elsevier |
| topic |
ddc 540 bkl 33.00 Elsevier Type 3 spinal muscular atrophy Elsevier Type 4 spinal muscular atrophy Elsevier SMA Elsevier Diagnosis Elsevier Electrodiagnostic studies Elsevier Muscle biopsy |
| topic_unstemmed |
ddc 540 bkl 33.00 Elsevier Type 3 spinal muscular atrophy Elsevier Type 4 spinal muscular atrophy Elsevier SMA Elsevier Diagnosis Elsevier Electrodiagnostic studies Elsevier Muscle biopsy |
| topic_browse |
ddc 540 bkl 33.00 Elsevier Type 3 spinal muscular atrophy Elsevier Type 4 spinal muscular atrophy Elsevier SMA Elsevier Diagnosis Elsevier Electrodiagnostic studies Elsevier Muscle biopsy |
| format_facet |
Elektronische Aufsätze Aufsätze Elektronische Ressource |
| format_main_str_mv |
Text Zeitschrift/Artikel |
| carriertype_str_mv |
zu |
| author2_variant |
s q r sqr |
| hierarchy_parent_title |
Archives de pédiatrie |
| hierarchy_parent_id |
ELV006498205 |
| dewey-tens |
540 - Chemistry 530 - Physics |
| hierarchy_top_title |
Archives de pédiatrie |
| isfreeaccess_txt |
false |
| familylinks_str_mv |
(DE-627)ELV006498205 |
| title |
Clinical features of spinal muscular atrophy (SMA) type 3 (Kugelberg-Welander disease) |
| ctrlnum |
(DE-627)ELV052525422 (ELSEVIER)S0929-693X(20)30273-6 |
| title_full |
Clinical features of spinal muscular atrophy (SMA) type 3 (Kugelberg-Welander disease) |
| author_sort |
Salort-Campana, E. |
| journal |
Archives de pédiatrie |
| journalStr |
Archives de pédiatrie |
| lang_code |
eng |
| isOA_bool |
false |
| dewey-hundreds |
500 - Science |
| recordtype |
marc |
| publishDateSort |
2020 |
| contenttype_str_mv |
zzz |
| container_start_page |
723 |
| author_browse |
Salort-Campana, E. |
| container_volume |
27 |
| physical |
6 |
| class |
540 530 VZ 33.00 bkl |
| format_se |
Elektronische Aufsätze |
| author-letter |
Salort-Campana, E. |
| doi_str_mv |
10.1016/S0929-693X(20)30273-6 |
| dewey-full |
540 530 |
| title_sort |
clinical features of spinal muscular atrophy (sma) type 3 (kugelberg-welander disease) |
| title_auth |
Clinical features of spinal muscular atrophy (SMA) type 3 (Kugelberg-Welander disease) |
| abstract |
Spinal muscular atrophy type 3 (SMA3), also called Kugelberg-Welander SMA, typically presents with muscle fatigue, slowly progressive weakness and atrophy of lower limbs once they have already acquired independent ambulation. Visceral involvement frequent in type 1 and 2 subtypes is rare in SMA3. Hypotonia, hyperlaxity and absent osteo-tendinous reflexes are typical features. By definition, standing or walking without support is achieved but the vast majority of SMA3 patients lose ambulation with time. Lifespan is normal. In some classifications, an additional subtype is included in the mild end of the spectrum, namely spinal muscular atrophy type 4 (SMA4). In this rare subtype, symptoms begin in adulthood; patients remain ambulatory at least until the fifth decade and have a normal respiratory function. Molecular genetic testing is the gold standard tool for diagnosis of SMA. However, diagnosis in a child affected with SMA3 is often challenging because clinical presentation mimics a muscular dystrophy. Electrodiagnostic studies and muscle biopsy are useful tools for demonstrating the presence of denervation but sometimes may not show meaningful differences to help distinguish between SMA and myopathy. Recent specific therapies show promising results before severe neuronal degeneration and motor dysfunction is installed. Therefore, high suspicion should be maintained and genetic analysis performed early in the diagnostic process when facing patients with symmetric and prominent proximal weakness, especially if they present progressive motor impairment. |
| abstractGer |
Spinal muscular atrophy type 3 (SMA3), also called Kugelberg-Welander SMA, typically presents with muscle fatigue, slowly progressive weakness and atrophy of lower limbs once they have already acquired independent ambulation. Visceral involvement frequent in type 1 and 2 subtypes is rare in SMA3. Hypotonia, hyperlaxity and absent osteo-tendinous reflexes are typical features. By definition, standing or walking without support is achieved but the vast majority of SMA3 patients lose ambulation with time. Lifespan is normal. In some classifications, an additional subtype is included in the mild end of the spectrum, namely spinal muscular atrophy type 4 (SMA4). In this rare subtype, symptoms begin in adulthood; patients remain ambulatory at least until the fifth decade and have a normal respiratory function. Molecular genetic testing is the gold standard tool for diagnosis of SMA. However, diagnosis in a child affected with SMA3 is often challenging because clinical presentation mimics a muscular dystrophy. Electrodiagnostic studies and muscle biopsy are useful tools for demonstrating the presence of denervation but sometimes may not show meaningful differences to help distinguish between SMA and myopathy. Recent specific therapies show promising results before severe neuronal degeneration and motor dysfunction is installed. Therefore, high suspicion should be maintained and genetic analysis performed early in the diagnostic process when facing patients with symmetric and prominent proximal weakness, especially if they present progressive motor impairment. |
| abstract_unstemmed |
Spinal muscular atrophy type 3 (SMA3), also called Kugelberg-Welander SMA, typically presents with muscle fatigue, slowly progressive weakness and atrophy of lower limbs once they have already acquired independent ambulation. Visceral involvement frequent in type 1 and 2 subtypes is rare in SMA3. Hypotonia, hyperlaxity and absent osteo-tendinous reflexes are typical features. By definition, standing or walking without support is achieved but the vast majority of SMA3 patients lose ambulation with time. Lifespan is normal. In some classifications, an additional subtype is included in the mild end of the spectrum, namely spinal muscular atrophy type 4 (SMA4). In this rare subtype, symptoms begin in adulthood; patients remain ambulatory at least until the fifth decade and have a normal respiratory function. Molecular genetic testing is the gold standard tool for diagnosis of SMA. However, diagnosis in a child affected with SMA3 is often challenging because clinical presentation mimics a muscular dystrophy. Electrodiagnostic studies and muscle biopsy are useful tools for demonstrating the presence of denervation but sometimes may not show meaningful differences to help distinguish between SMA and myopathy. Recent specific therapies show promising results before severe neuronal degeneration and motor dysfunction is installed. Therefore, high suspicion should be maintained and genetic analysis performed early in the diagnostic process when facing patients with symmetric and prominent proximal weakness, especially if they present progressive motor impairment. |
| collection_details |
GBV_USEFLAG_U GBV_ELV SYSFLAG_U |
| container_issue |
7 |
| title_short |
Clinical features of spinal muscular atrophy (SMA) type 3 (Kugelberg-Welander disease) |
| url |
https://doi.org/10.1016/S0929-693X(20)30273-6 |
| remote_bool |
true |
| author2 |
Quijano-Roy, S. |
| author2Str |
Quijano-Roy, S. |
| ppnlink |
ELV006498205 |
| mediatype_str_mv |
z |
| isOA_txt |
false |
| hochschulschrift_bool |
false |
| author2_role |
oth |
| doi_str |
10.1016/S0929-693X(20)30273-6 |
| up_date |
2024-07-06T23:16:11.838Z |
| _version_ |
1803873442163851264 |
| fullrecord_marcxml |
<?xml version="1.0" encoding="UTF-8"?><collection xmlns="http://www.loc.gov/MARC21/slim"><record><leader>01000caa a22002652 4500</leader><controlfield tag="001">ELV052525422</controlfield><controlfield tag="003">DE-627</controlfield><controlfield tag="005">20230626033407.0</controlfield><controlfield tag="007">cr uuu---uuuuu</controlfield><controlfield tag="008">210910s2020 xx |||||o 00| ||eng c</controlfield><datafield tag="024" ind1="7" ind2=" "><subfield code="a">10.1016/S0929-693X(20)30273-6</subfield><subfield code="2">doi</subfield></datafield><datafield tag="028" ind1="5" ind2="2"><subfield code="a">/cbs_pica/cbs_olc/import_discovery/elsevier/einzuspielen/GBV00000000001242.pica</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-627)ELV052525422</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(ELSEVIER)S0929-693X(20)30273-6</subfield></datafield><datafield tag="040" ind1=" " ind2=" "><subfield code="a">DE-627</subfield><subfield code="b">ger</subfield><subfield code="c">DE-627</subfield><subfield code="e">rakwb</subfield></datafield><datafield tag="041" ind1=" " ind2=" "><subfield code="a">eng</subfield></datafield><datafield tag="082" ind1="0" ind2="4"><subfield code="a">540</subfield><subfield code="a">530</subfield><subfield code="q">VZ</subfield></datafield><datafield tag="084" ind1=" " ind2=" "><subfield code="a">33.00</subfield><subfield code="2">bkl</subfield></datafield><datafield tag="100" ind1="1" ind2=" "><subfield code="a">Salort-Campana, E.</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="245" ind1="1" ind2="0"><subfield code="a">Clinical features of spinal muscular atrophy (SMA) type 3 (Kugelberg-Welander disease)</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="c">2020transfer abstract</subfield></datafield><datafield tag="300" ind1=" " ind2=" "><subfield code="a">6</subfield></datafield><datafield tag="336" ind1=" " ind2=" "><subfield code="a">nicht spezifiziert</subfield><subfield code="b">zzz</subfield><subfield code="2">rdacontent</subfield></datafield><datafield tag="337" ind1=" " ind2=" "><subfield code="a">nicht spezifiziert</subfield><subfield code="b">z</subfield><subfield code="2">rdamedia</subfield></datafield><datafield tag="338" ind1=" " ind2=" "><subfield code="a">nicht spezifiziert</subfield><subfield code="b">zu</subfield><subfield code="2">rdacarrier</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="a">Spinal muscular atrophy type 3 (SMA3), also called Kugelberg-Welander SMA, typically presents with muscle fatigue, slowly progressive weakness and atrophy of lower limbs once they have already acquired independent ambulation. Visceral involvement frequent in type 1 and 2 subtypes is rare in SMA3. Hypotonia, hyperlaxity and absent osteo-tendinous reflexes are typical features. By definition, standing or walking without support is achieved but the vast majority of SMA3 patients lose ambulation with time. Lifespan is normal. In some classifications, an additional subtype is included in the mild end of the spectrum, namely spinal muscular atrophy type 4 (SMA4). In this rare subtype, symptoms begin in adulthood; patients remain ambulatory at least until the fifth decade and have a normal respiratory function. Molecular genetic testing is the gold standard tool for diagnosis of SMA. However, diagnosis in a child affected with SMA3 is often challenging because clinical presentation mimics a muscular dystrophy. Electrodiagnostic studies and muscle biopsy are useful tools for demonstrating the presence of denervation but sometimes may not show meaningful differences to help distinguish between SMA and myopathy. Recent specific therapies show promising results before severe neuronal degeneration and motor dysfunction is installed. Therefore, high suspicion should be maintained and genetic analysis performed early in the diagnostic process when facing patients with symmetric and prominent proximal weakness, especially if they present progressive motor impairment.</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="a">Spinal muscular atrophy type 3 (SMA3), also called Kugelberg-Welander SMA, typically presents with muscle fatigue, slowly progressive weakness and atrophy of lower limbs once they have already acquired independent ambulation. Visceral involvement frequent in type 1 and 2 subtypes is rare in SMA3. Hypotonia, hyperlaxity and absent osteo-tendinous reflexes are typical features. By definition, standing or walking without support is achieved but the vast majority of SMA3 patients lose ambulation with time. Lifespan is normal. In some classifications, an additional subtype is included in the mild end of the spectrum, namely spinal muscular atrophy type 4 (SMA4). In this rare subtype, symptoms begin in adulthood; patients remain ambulatory at least until the fifth decade and have a normal respiratory function. Molecular genetic testing is the gold standard tool for diagnosis of SMA. However, diagnosis in a child affected with SMA3 is often challenging because clinical presentation mimics a muscular dystrophy. Electrodiagnostic studies and muscle biopsy are useful tools for demonstrating the presence of denervation but sometimes may not show meaningful differences to help distinguish between SMA and myopathy. Recent specific therapies show promising results before severe neuronal degeneration and motor dysfunction is installed. Therefore, high suspicion should be maintained and genetic analysis performed early in the diagnostic process when facing patients with symmetric and prominent proximal weakness, especially if they present progressive motor impairment.</subfield></datafield><datafield tag="650" ind1=" " ind2="7"><subfield code="a">Type 3 spinal muscular atrophy</subfield><subfield code="2">Elsevier</subfield></datafield><datafield tag="650" ind1=" " ind2="7"><subfield code="a">Type 4 spinal muscular atrophy</subfield><subfield code="2">Elsevier</subfield></datafield><datafield tag="650" ind1=" " ind2="7"><subfield code="a">SMA</subfield><subfield code="2">Elsevier</subfield></datafield><datafield tag="650" ind1=" " ind2="7"><subfield code="a">Diagnosis</subfield><subfield code="2">Elsevier</subfield></datafield><datafield tag="650" ind1=" " ind2="7"><subfield code="a">Electrodiagnostic studies</subfield><subfield code="2">Elsevier</subfield></datafield><datafield tag="650" ind1=" " ind2="7"><subfield code="a">Muscle biopsy</subfield><subfield code="2">Elsevier</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Quijano-Roy, S.</subfield><subfield code="4">oth</subfield></datafield><datafield tag="773" ind1="0" ind2="8"><subfield code="i">Enthalten in</subfield><subfield code="n">Elsevier</subfield><subfield code="a">Cui, Yuqiong ELSEVIER</subfield><subfield code="t">Archives de pédiatrie</subfield><subfield code="d">2021</subfield><subfield code="g">Amsterdam [u.a.]</subfield><subfield code="w">(DE-627)ELV006498205</subfield></datafield><datafield tag="773" ind1="1" ind2="8"><subfield code="g">volume:27</subfield><subfield code="g">year:2020</subfield><subfield code="g">number:7</subfield><subfield code="g">pages:723-728</subfield><subfield code="g">extent:6</subfield></datafield><datafield tag="856" ind1="4" ind2="0"><subfield code="u">https://doi.org/10.1016/S0929-693X(20)30273-6</subfield><subfield code="3">Volltext</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_USEFLAG_U</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ELV</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">SYSFLAG_U</subfield></datafield><datafield tag="936" ind1="b" ind2="k"><subfield code="a">33.00</subfield><subfield code="j">Physik: Allgemeines</subfield><subfield code="q">VZ</subfield></datafield><datafield tag="951" ind1=" " ind2=" "><subfield code="a">AR</subfield></datafield><datafield tag="952" ind1=" " ind2=" "><subfield code="d">27</subfield><subfield code="j">2020</subfield><subfield code="e">7</subfield><subfield code="h">723-728</subfield><subfield code="g">6</subfield><subfield code="y">27.2020, 7, 7S23-, (6 S.)</subfield></datafield></record></collection>
|
| score |
7.399373 |