" /> Facioscapulohumeral form of spinal muscular atrophy - CISMeF





Preferred Label : Facioscapulohumeral form of spinal muscular atrophy;

ICD-11 definition : A mother and daughter with early adult-onset of slowly progressive face and pectoral girdle weakness were reported. Electromyography and muscle biopsy suggested a neurogenic cause, differentiating the disorder from fascioscapulohumeral muscular dystrophy. The specific genetic abnormality causing the disorder remains unknown.;

ICD-11 synonym : FSHSMA - [Facioscapulohumeral form of spinal muscular atrophy];

ICD-11 acronym : FSHSMA;

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A mother and daughter with early adult-onset of slowly progressive face and pectoral girdle weakness were reported. Electromyography and muscle biopsy suggested a neurogenic cause, differentiating the disorder from fascioscapulohumeral muscular dystrophy. The specific genetic abnormality causing the disorder remains unknown.

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08/05/2025


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