TEFM-related disease is a very rare genetic condition that affects how mitochondria—the energy-producing parts of our cells—make certain important molecules. This process is called mitochondrial transcription, and when it's disrupted, it can lead to problems in many body systems.
How rare is it?
• As of now, only seven people with this condition have been reported in the medical literature.
How is it inherited?
• This condition is autosomal recessive, meaning that a child must inherit one altered copy of the TEFMgene (variant) from each parent to be affected. The parents are usually healthy carriers.
What are the symptoms?
• Symptoms can vary a lot, even between family members. Some people have a very severe form, becoming seriously ill shortly after birth with problems like low blood sugar, high lactic acid levels, seizures, and liver failure, leading to early death. Others developed progressive neurological symptoms during infancy, including epilepsy, muscle weakness, and eye movement problems. A few people have a milder course, with slower developmental progress, learning difficulties, features of autism, problems with coordination, and episodes of muscle weakness or tiredness.
TEFM