Conditions / Genetic
spinal muscular atrophy with lower extremity predominant 1
info · Genetic
A spinal muscular atrophy with lower extremity predominance that has_material_basis_in heterozygous mutation in the DYNC1H1 gene on chromosome 14q32.
Signs and symptoms
- Abnormal foot morphology
- EMG: neuropathic changes
- Decreased patellar reflex
- Delayed ability to walk
- Somatic sensory dysfunction
- Type 2 muscle fiber predominance
- Difficulty running
- Proximal lower limb muscle weakness
- Waddling gait
- Spinal muscular atrophy
Also known as: spinal muscular atrophy with lower extremity predominance 1