Autosomal dominant adult-onset proximal spinal muscular atrophy

Orpha code: 209335OMIM code: 182980

Definition

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
Classification

Disease

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

No additional description.

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