Severe X-linked mitochondrial encephalomyopathy
ORPHA:238329· ICD-10 E88.8
Definition
Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date.
- Prevalence
- <1 / 1 000 000
- Inheritance
- X-linked recessive
- Age of onset
- Infancy, Neonatal