Mitochondrial Disease

The Monday before Nathan died he had a muscle biopsy to test for Mitochondrial Disease. I talked with his pulmonologist on Friday and he confirmed that he had consistency with Mitochondrial Disease. They are sending the muscle tissue for further testing.

Following is some info about Mito from www.mda.org

Definition - a group of diseases that affect the mitochondria, tiny energy factories found inside almost all cells, and interfere with the function of muscles. The group is comprised of Kearns-Sayre syndrome (KSS) ; Leigh's syndrome ; mitochondrial DNA depletion syndrome (MDS) ; mitochondrial encephalomyopathy, lactic acidosis and strokelike episodes (MELAS) ; myoclonus epilepsy with ragged red fibers (MERRF) ; mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) ; neuropathy, ataxia and retinitis pigmentosa (NARP) ; Pearson syndrome; and progressive external ophthalmoplegia (PEO).

Cause - a defect in either a mitochondrial gene or a gene in the cell nucleus that affects the functioning of the mitochondria

Onset - varies according to disease

Symptoms - vary according to disease; in general, nervous system impairment, eye problems, cardiac abnormalities, skeletal muscle abnormalities, and disorders of the gastrointestinal tract

Progression - varies according to disease

Inheritance - if defect is in a mitochondrial gene, inheritance is from mother only; if in a nuclear gene, it depends on the gene and is not restricted to maternal inheritance

I've been researching Mito for some time now since I always felt that he had this disease. The closest I can come to a specific diagnosis is NARP and Leigh's Disease.

NARP: Neuropathy, ataxia and retinitis pigmentosa

Onset: Infancy or childhood

Disease characteristics: May cause vision problems, lack of coordination and mental retardation. This syndrome may represent a less severe form of MILS.

Leigh's syndrome: Subacute necrotizing encephalomyopathy

Onset: Infancy; progression can be fast or slow.

Disease characteristics: May cause brain abnormalities, vomiting, seizures, feeding difficulties, heart problems, epilepsy, speech difficulties and muscle weakness.

I'll list some links that have important information for Mito and chILD.