Genetics

After years of genetic testing we got results yesterday that confirms a gene mutation. Mitochondrial Disease genes are hard to detect - sometimes you never know what nuclear DNA genes are affected - only have mitochondrial DNA results. This gene is the primary cause of Megan's Mitochondrial Dysfunction.

We will be doing some other tests now that we have this info....this was definitely long awaited. Cant say it is good news, but it was necessary news.

Santavuori-Haltia/Infantile CLN1/PPT disease
Definition:
Santavuori-Haltia/Infantile CLN1/PPT Disease is part of a group of progressive degenerative neurometabolic disorders known as the neuronal ceroid lipofuscinoses (NCLs). The NCLs are characterized by an abnormal accumulation of lipopigaments, which are subtances combined of fats and proteins within the brain’s nerve cells, eyes, skin, muscle, and within other tissues throughout the body.

NCL I is known to result from deficient activity of an enzyme called palmitoyl—protein thioesterase-1 (PPT-10). The gene coding for this enzyme has been named CLN1.

Symptoms of Santavuori-Haltia/Infantile CLN1/PPT Disease begin between six months and 19 months of age. During ages of six to 19 months, a delay in mental and muscular activities appears at the same time when the affected child begins to lose the mental and physical skills he/she had acquired. A small head, seizures, an inability to coordinate voluntary muscular movements, decreasing muscle tone, muscle spasms, and visual impairments are additional symptoms. As neurological complication progress, immobility, spastic and involuntary movements, and a lack of response may also occur.

Santavuori-Haltia/Infantile CLN1/PPT disorder is an autosomal recessive disorder.

Life Expectancy for Santavuori-Haltia/Infantile CLN1/PPT disorder is five years of age or younger.

An MRI scan of the brain typically shows severe atrophy of the cerebral hemispheres and cerebellum.

There is no cure for Santavuori-Haltia/Infantile CLN1/PPT disorder. Treatment is limited to reducing or controlling the symptoms of this disorder by routine consultation with the patient’s neurologists, ophthalmologists and genetic counselors.