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.
Tünetek és jelek
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.
Mit változtat a diagnózis
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.
Más néven
encephalopathy due to defective mitochondrial and peroxisomal fission
2 kapcsolódó altípust tartalmaz ↓Altípusok elrejtése ↑
- encephalopathy due to defective mitochondrial and peroxisomal fission 2
- encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1
