Conditions / Genetic
hereditary spastic paraplegia 70
info · Genetic
A hereditary spastic paraplegia characterized by infantile onset of motor delay and difficulties walking due to spasticity of the lower limbs that has_material_basis_in compound heterozygous mutation in the MARS1 gene on chromosome 12q13.3.
Signs and symptoms
- Skeletal muscle atrophy
- Delayed speech and language development
- Delayed ability to walk
- Feeding difficulties
- Global developmental delay
- Motor delay
- Ankle clonus
- Hypertelorism
- High palate
- Spasticity
Also known as: SPG70; autosomal recessive spastic paraplegia 70