Conditions / Genetic
hereditary spastic paraplegia 43
info · Genetic · ICD-10: G11.4
A hereditary spastic paraplegia that has_material_basis_in mutation in the C19ORF12 gene on chromosome 19q12.
Signs and symptoms
- Gait disturbance
- Peripheral neuropathy
- Loss of ambulation
- Muscle weakness
- Spasticity
- Distal amyotrophy
- Distal sensory impairment
- Hyporeflexia
- Pes cavus
- Babinski sign
Also known as: SPG43; autosomal recessive spastic paraplegia 43; autosomal recessive spastic paraplegia type 43