Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 (EMPF1) is a rare genetic disorder characterized by delayed psychomotor development and hypotonia that may lead to an early death.
The disease is derived from the defective DNM1L gene on chromosome 12. DNM1L is a gene that affects our body’s mitochondria structure. Many patients with EMPF1 develop refractory seizures, eventually showing a neurologic decline.
PREVALENCE / ONSET
EMPF1 is known to affect approximately 1 in 1,000,000 worldwide.
The symptoms usually appear early, from neonatal to childhood.
Since EMPF1 is very rare, genetic testings that cover multiple genes are necessary for final diagnosis. Whole exome sequencing (WES) and whole genome sequencing (WGS) are the available tests for such purposes.
To learn more, read the diagnosis story of a girl with EMPF1.
![Two family trees showing autosomal dominant pattern and autosomal recessive inheritance pattern of EMPF1.]
EMPF1 is inherited in both autosomal dominant and autosomal recessive patterns.
However, a genetic variant on the gene DNM1L usually occurs de novo.
- So far, there is no cure for treating EMPF1. Usually, supportive care is provided in the hospital, clinic, or home setting.
Helpful communities for EMPF1
Currently, no specific support groups are available for EMPF1.
Visit the websites below to learn more about various support groups.
National Organization for Rare Disorders(NORD)