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
Autor*in: |
Skippen, Alison [verfasserIn] Ramdas, Sithara [verfasserIn] |
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Format: |
E-Artikel |
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Sprache: |
Englisch |
Erschienen: |
2023 |
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Schlagwörter: |
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Übergeordnetes Werk: |
Enthalten in: Paediatrics and child health - Amsterdam : Elsevier, 2007, 33, Seite 295-304 |
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Übergeordnetes Werk: |
volume:33 ; pages:295-304 |
DOI / URN: |
10.1016/j.paed.2023.07.002 |
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10.1016/j.paed.2023.07.002 doi (DE-627)ELV064893898 (ELSEVIER)S1751-7222(23)00118-X DE-627 ger DE-627 rda eng 610 VZ 44.67 bkl Skippen, Alison verfasserin aut What's new in congenital neuromuscular disorders: update on treatments 2023 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier 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. Congenital muscle disorders muscular dystrophy myasthenia myopathy neuropathy spinal muscular atrophy treatments Ramdas, Sithara verfasserin aut Enthalten in Paediatrics and child health Amsterdam : Elsevier, 2007 33, Seite 295-304 Online-Ressource (DE-627)527641685 (DE-600)2278392-1 (DE-576)272351245 1878-206X nnns volume:33 pages:295-304 GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA GBV_ILN_31 GBV_ILN_2004 GBV_ILN_2068 GBV_ILN_2111 GBV_ILN_4251 44.67 Kinderheilkunde VZ AR 33 295-304 |
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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. |
abstract_unstemmed |
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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