Conditions / Nervous system
autosomal dominant adult-onset proximal spinal muscular atrophy
info · Nervous system
A spinal muscular atrophy characterized by adult-onset of slowly progressive, proximal muscular weakness with fasciculations and absent/hypoactive deep tendon reflexes, without bulbar or pyramidal involvement that has_material_basis_in heterozygous mutation in
A spinal muscular atrophy characterized by adult-onset of slowly progressive, proximal muscular weakness with fasciculations and absent/hypoactive deep tendon reflexes, without bulbar or pyramidal involvement that has_material_basis_in heterozygous mutation in VAPB on 20q13.
Signs and symptoms
- Hyporeflexia
- Fasciculations
- Muscle spasm
- Proximal muscle weakness
- Proximal amyotrophy
- EMG: neuropathic changes
- Spinal muscular atrophy
- Distal amyotrophy
- Distal muscle weakness
- Loss of ambulation
Also known as: Finkel disease; Finkel late-adult type SMA; SMAFK; autosomal dominant adult proximal spinal muscular atrophy; autosomal dominant adult-onset proximal SMA