Conditions / Genetic
hereditary spastic paraplegia 39
info · Genetic · ICD-10: G11.4
A hereditary spastic paraplegia that has_material_basis_in mutation in the PNPLA6 gene on chromosome 19p13.
Signs and symptoms
- Distal lower limb muscle weakness
- Gait disturbance
- Babinski sign
- Progressive spastic paraplegia
- Distal amyotrophy
- Atrophy of the spinal cord
- Hyperreflexia
- Cerebellar atrophy
- Ataxia
Also known as: NTE-related motor neuron disorder; NTEMND; SPG39; autosomal recessive spastic paraplegia 39; autosomal recessive spastic paraplegia type 39