Conditions / Genetic
hereditary spastic paraplegia 30B
info · Genetic
A hereditary spastic paraplegia 30 that has_material_basis_in homozygous mutation in the KIF1A gene on chromosome 2q37.
Signs and symptoms
- Leg muscle stiffness
- Lower limb spasticity
- Difficulty running
- Babinski sign
- Gait disturbance
- Lower limb hyperreflexia
- Spasticity
- Distal amyotrophy
- Muscle weakness
- Impaired pain sensation
Also known as: autosomal recessive spastic paraplegia 30