Conditions / Genetic
hereditary spastic paraplegia 83
info · Genetic
A hereditary spastic paraplegia characterized by progressive lower limb spasticity resulting in gait instability that has_material_basis_in homozygous or compound heterozygous mutation in the HPDL gene on chromosome 1p34.1.
Signs and symptoms
- Lower limb hyperreflexia
- Unsteady gait
- Spastic paraplegia
- Babinski sign
- Muscle spasm
- Gait ataxia
- Paresthesia
- Dysphagia
- Urinary urgency
- Myalgia
Also known as: SPG83; spastic paraplegia 83 autosomal recessive