Autosomal dominant adult-onset proximal spinal muscular atrophy

Orpha code: 209335OMIM code: 182980

Definicja

A rare, genetic, motor neuron disease characterized by adulthood-onset of slowly progressive, proximal muscular weakness with fasciculations, amyotrophy, cramps, and absent/hypoactive reflexes, without bulbar or pyramidal involvement.

Disease data
Klasyfikacja

Disease

Synonimy
Autosomal dominant adult-onset proximal SMA
Choroba Finkela
Autosomal dominant late-onset spinal muscular atrophy, Finkel type
Finkel disease
SMAFK
Kod ORPHA
209335
Kod OMIM
182980
Kod ICD10
G12.1
Kod ICD11
8B61.Y

No additional description.

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