Conditions / Genetic
Mitchell syndrome
info · Genetic
A peroxisomal disease characterized by progressive episodic demyelination, sensorimotor polyneuropathy, and hearing loss that has_material_basis_in heterozygous mutation in the ACOX1 gene on chromosome 17q25.1.
Signs and symptoms
- Encephalopathy
- Dysphagia
- Clumsiness
- Absent speech
- Gait disturbance
- Seizure
- Limb muscle weakness
- Sensory axonal neuropathy
- Abnormal autonomic nervous system physiology
- Respiratory insufficiency due to muscle weakness