A type IV spinal muscular atrophy with gastrocnemius pseudohypertrophy caused by SMN1 deletion: a case report and literature review

Abstract Background Spinal muscular atrophy (SMA) is a rare autosomal recessive genetic disorder characterized by severe neurological and muscular degeneration, often leading to severe disability or death. Its complex clinical manifestations frequently result in misdiagnosis or missed diagnosis. Typ...

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Auteurs principaux:	Hu Xi, Wangsheng He, Hailin Jiang, Wenting Xie, Yue Yang, Yulong Yang, Ke Diao, Wenming Yang, Hao Li
Format:	Artigo
Langue:	Inglês
Publié:	BMC 2026-01-01
Collection:	BMC Neurology
Sujets:	Spinal muscular atrophy Type IV SMN1 Rare disease Gastrocnemius pseudohypertrophy
Accès en ligne:	https://doi.org/10.1186/s12883-025-04619-1
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