What is mitochondrial disease in babies?

24/10/2022

What is mitochondrial disease in babies?

Mitochondrial disorders are genetic and sometimes run in families. They can cause a wide range of symptoms, from developmental delay and hearing loss to seizures, strokes, heart failure and diabetes, in differing combinations. Multi-organ involvement is typical for these disorders.

What is the prognosis for Melas syndrome?

MELAS syndrome widely varies in presentation; however, patients in general tend to have a poor prognosis and outcome. The encephalomyopathy tends to be severe and progressive to dementia. The patient with MELAS syndrome may end up in a state of cachexia. Currently, no therapies have proven efficacy.

Can MELAS be cured?

There is no cure for MELAS. Treatment for the condition varies and focuses on managing the symptoms of the condition. Anticonvulsant medications are often used to prevent seizures that can occur with MELAS. For patients who have experienced hearing loss, cochlear implants may be used to restore some hearing ability.

How could a child have a mitochondrial disorder even though neither of her parents have symptoms?

Under normal circumstances, a child inherits genes in pairs — one gene from the mother and one from the father. A child with a mitochondrial disease does NOT receive a normal pair of genes from the parents. The gene has mutated – meaning it has become defective (changed).

How is MELAS inherited?

The genes associated with MELAS are located in mitochondrial DNA and therefore follow a maternal inheritance pattern (also called mitochondrial inheritance). MELAS can be inherited from the mother only, because only females pass mitochondrial DNA to their children.

How do you treat MELAS?

Is mitochondrial disease a disability?

People who suffer from mitochondrial disease qualify for the Compassionate Allowance Program offered by the Social Security Administration (SSA). The nature of the disease means that complications are often inevitable, and the severity of these complications makes it impossible for sufferers to work.

Is mitochondrial disease inherited only from mother?

Only mitochondrial disorders caused by mutations in the mitochondrial DNA are exclusively inherited from mothers. If this is the way a mitochondrial disease was inherited, there is a 100% chance that each child in the family will inherit a mitochondrial disease.