Conditions / Nervous system
Behr syndrome
info · Nervous system
A nervous system disease characterized by early-onset optic atrophy, ataxia, pyramidal signs, spasticity, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the OPA1 gene on chromosome 3q29.
Signs and symptoms
- Ataxia
- Peripheral neuropathy
- Optic atrophy
- Achilles tendon contracture
- Dysmetria
- Sensory axonal neuropathy
- Motor delay
- Nystagmus
- Chronic constipation
- Intellectual disability
Also known as: Abortive cerebellar ataxia (BEHRS); BEHRS; optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss; optic atrophy, infantile hereditary, Behr complicated form of