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