Autosomal dominant adult-onset proximal spinal muscular atrophy


Engelsk navn: Autosomal dominant adult-onset proximal spinal muscular atrophy
Engelske synonym: Autosomal dominant adult-onset proximal SMA,Autosomal dominant late-onset spinal muscular atrophy, Finkel type,Finkel disease,SMAFK


Definisjon

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.

Fra Orphanet

ORPHA: 209335
Klassifiseringsnivå: Disorder
ICD-10: G12.1

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