Conditions / Genetic
hereditary spastic paraplegia 44
info · Genetic · ICD-10: G11.4
A hereditary spastic paraplegia that has_material_basis_in mutation in the GJC2 gene on chromosome 1q42.
Signs and symptoms
- Ataxia
- Spastic gait
- Lower limb spasticity
- CNS hypomyelination
- Hyperreflexia
- Babinski sign
- Hypoplasia of the corpus callosum
- Pes cavus
- Dysarthria
- Spastic paraplegia
Also known as: SPG44; autosomal recessive spastic paraplegia 44