Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
ORPHA:330054· ICD-10 G71.3
Definition
A rare, genetic, mitochondrial myopathy characterized by congenital cataract, progressive muscular hypotonia that particularly affects the lower limbs, reduced deep tendon reflexes, sensorineural hearing loss, global development delay and lactic acidosis. Muscle biopsy reveals reduced complex I, II and IV respiratory chain activity.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal