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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...

Ausführliche Beschreibung

Gespeichert in:
Hauptverfasser: Hu Xi, Wangsheng He, Hailin Jiang, Wenting Xie, Yue Yang, Yulong Yang, Ke Diao, Wenming Yang, Hao Li
Format: Artigo
Sprache:Inglês
Veröffentlicht: BMC 2026-01-01
Schriftenreihe:BMC Neurology
Schlagworte:
Spinal muscular atrophy
Type IV
SMN1
Rare disease
Gastrocnemius pseudohypertrophy
Online-Zugang:https://doi.org/10.1186/s12883-025-04619-1
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