Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 (EMPF 1)

The cover of 'Rare Disease Series #19 Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 (EMPF 1)'

About EMPF1

Diagram showing that the DNM1L gene affects our body's mitochondria

Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 (EMPF 1) 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

Map background with silhouettes of children and words saying "Affects approximately 1 in 1,000,000 worldwide."
Prevalence
EMPF1 is known to affect approximately 1 in 1,000,000 worldwide.

Onset
The symptoms usually appear early, from neonatal to childhood.

SYMPTOMS

Six symptoms of EMPF1: diminished fetal movement, microcephaly, hypotonia, poor feeding, global developmental delay, seizures

DIAGNOSIS

Two DNA double helix explaining whole exome sequencing and whole genome sequencing

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.

INHERITANCE PATTERN

![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.

TREATMENTS

  1. ic-treatments-black@3x-3
  2. 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)
https://rarediseases.org/

EURORDIS
https://www.eurordis.org/