Caused by changes in DNM1L or MFF, which work together to split mitochondria and peroxisomes. DNM1L changes usually affect one copy and often arise de novo, although recessive forms exist; MFF-related disease needs changes in both copies.
Příznaky a projevy
DNM1L-related disease often presents in infancy or early childhood with developmental delay, low muscle tone, hard-to-control seizures, and sometimes sudden encephalopathy or status epilepticus; the most severe cases are fatal in infancy. MFF-related disease is usually milder, with developmental delay, seizures, optic atrophy and peripheral neuropathy, sometimes with Leigh-like brain changes. Less often, DNM1L changes cause isolated optic atrophy.
Co se diagnózou změní
Care is supportive, focusing on seizure control, nutrition, rehabilitation and eye care, led by neurology and metabolic specialists. Genetic counselling is guided by which gene is involved: parental testing for de novo DNM1L changes, and carrier testing for MFF.
Známé také jako
encephalopathy due to defective mitochondrial and peroxisomal fission
Zahrnuje 2 příbuzných podtypů ↓Skrýt podtypy ↑
- encephalopathy due to defective mitochondrial and peroxisomal fission 2
- encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1
