What's new in congenital neuromuscular disorders: update on treatments
The field of neuromuscular disorders is rapidly changing with new gene discoveries and disease modifying treatments changing the natural history of previously severe congenital disorders. The last ten years have seen new treatments move quickly into clinical practice. Early diagnosis and delivery of...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Skippen, Alison [verfasserIn] Ramdas, Sithara [verfasserIn] |
|---|
| Format: |
E-Artikel |
|---|---|
| Sprache: |
Englisch |
| Erschienen: |
2023 |
|---|
| Schlagwörter: |
|---|
| Übergeordnetes Werk: |
Enthalten in: Paediatrics and child health - Amsterdam : Elsevier, 2007, 33, Seite 295-304 |
|---|---|
| Übergeordnetes Werk: |
volume:33 ; pages:295-304 |
| DOI / URN: |
10.1016/j.paed.2023.07.002 |
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The field of neuromuscular disorders is rapidly changing with new gene discoveries and disease modifying treatments changing the natural history of previously severe congenital disorders. The last ten years have seen new treatments move quickly into clinical practice. Early diagnosis and delivery of optimal standards of care is more crucial than ever now, so patients can get the best benefit from these new innovative treatments. This short article outlines some of the recent advances in diagnosis and treatment of congenital neuromuscular disorders including spinal muscular atrophy and Duchenne muscular dystrophy. It highlights areas of active research and the emerging therapies in limb girdle muscular dystrophies, Charcot Marie Tooth disease and congenital myasthenia syndromes. |
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The field of neuromuscular disorders is rapidly changing with new gene discoveries and disease modifying treatments changing the natural history of previously severe congenital disorders. The last ten years have seen new treatments move quickly into clinical practice. Early diagnosis and delivery of optimal standards of care is more crucial than ever now, so patients can get the best benefit from these new innovative treatments. This short article outlines some of the recent advances in diagnosis and treatment of congenital neuromuscular disorders including spinal muscular atrophy and Duchenne muscular dystrophy. It highlights areas of active research and the emerging therapies in limb girdle muscular dystrophies, Charcot Marie Tooth disease and congenital myasthenia syndromes. |
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<?xml version="1.0" encoding="UTF-8"?><collection xmlns="http://www.loc.gov/MARC21/slim"><record><leader>01000naa a22002652 4500</leader><controlfield tag="001">ELV064893898</controlfield><controlfield tag="003">DE-627</controlfield><controlfield tag="005">20230930073009.0</controlfield><controlfield tag="007">cr uuu---uuuuu</controlfield><controlfield tag="008">230930s2023 xx |||||o 00| ||eng c</controlfield><datafield tag="024" ind1="7" ind2=" "><subfield code="a">10.1016/j.paed.2023.07.002</subfield><subfield code="2">doi</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-627)ELV064893898</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(ELSEVIER)S1751-7222(23)00118-X</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">rda</subfield></datafield><datafield tag="041" ind1=" " ind2=" "><subfield code="a">eng</subfield></datafield><datafield tag="082" ind1="0" ind2="4"><subfield code="a">610</subfield><subfield code="q">VZ</subfield></datafield><datafield tag="084" ind1=" " ind2=" "><subfield code="a">44.67</subfield><subfield code="2">bkl</subfield></datafield><datafield tag="100" ind1="1" ind2=" "><subfield code="a">Skippen, Alison</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="245" ind1="1" ind2="0"><subfield code="a">What's new in congenital neuromuscular disorders: update on treatments</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="c">2023</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">Computermedien</subfield><subfield code="b">c</subfield><subfield code="2">rdamedia</subfield></datafield><datafield tag="338" ind1=" " ind2=" "><subfield code="a">Online-Ressource</subfield><subfield code="b">cr</subfield><subfield code="2">rdacarrier</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="a">The field of neuromuscular disorders is rapidly changing with new gene discoveries and disease modifying treatments changing the natural history of previously severe congenital disorders. 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