Conditions / Genetic
hereditary spastic paraplegia 26
info · Genetic · ICD-10: G11.4
A hereditary spastic paraplegia that has_material_basis_in mutation in the B4GALNT1 gene on chromosome 12q13.
Signs and symptoms
- Mild intellectual disability
- Lower limb spasticity
- Lower limb muscle weakness
- Babinski sign
- Scoliosis
- Distal lower limb amyotrophy
- Impaired vibratory sensation
- Pes cavus
- Dysmetria
- Ataxia
Also known as: GM2 synthase deficiency; SPG26; autosomal recessive spastic paraplegia 26; autosomal recessive spastic paraplegia type 26