Conditions / Genetic
spinal muscular atrophy, Jokela type
info · Genetic
A spinal muscular atrophy that is characterized by adult-onset of muscle cramps and fasciculations affecting the proximal and distal muscles of the upper and lower limbs and that has_material_basis_in heterozygous mutation in the CHCHD10 gene on chromosome 22q
A spinal muscular atrophy that is characterized by adult-onset of muscle cramps and fasciculations affecting the proximal and distal muscles of the upper and lower limbs and that has_material_basis_in heterozygous mutation in the CHCHD10 gene on chromosome 22q11.
Signs and symptoms
- Muscle spasm
- Areflexia
- Muscle weakness
- Skeletal muscle atrophy
- Hyporeflexia
- Elevated circulating creatine kinase activity
- Gait disturbance
- Pes cavus
- Fasciculations
- Spinal muscular atrophy