What is Mitochondrial Disease?

For those of you who are curious about Mitochondrial Disease I will include some info below as well as how we found out that Shawn has Mito.

Mito or Mitochondrial Disease - Mitochondrial diseases are a group of disorders relating to the mitochondria, the organelles that are the "powerhouses" of the eukaryotic cells that compose higher-order life-forms (including humans). The mitochondria convert the energy of food molecules into the ATP that powers most cell functions.

Mitochondrial diseases comprise those disorders that in one way or another affect the function of the mitochondria or are due to mitochondrial DNA. Mitochondrial diseases take on unique characteristics both because of the way the diseases are often inherited and because mitochondria are so critical to cell function. The subclass of these diseases that have neuromuscular disease symptoms are often referred to as a mitochondrial myopathy.

When Shawn was born he was a breech baby deliverd via C-section. Within the first months he had Torticollis http://en.wikipedia.org/wiki/Torticollis.
When Shawn was around 1 yr and still wasn't walking we were concerned and after numerous doctor appts. and visits from JF&CS we knew that things weren't quite normal with Shawn. http://www.jfcsboston.org/

He would do some things great at a young age like throw a wiffle ball to me, and he has always been as smart as a whip! We began to notice a lot of peculiar tendencies like favoring one side to sleep on, lining up all his toys, trouble swallowing some foods and when he got sick it seemed like forever. One thing in particular that he always seemed to do when he got excited is spin his feet and hands in circles.

So after a few tests for Autism (we were told hr could be borderline Autistic because of some of his mannerisms) and Asberger's we were just kind of lost. Eventually Shawn was diagnosed with low muscle tone. We knew there was much more to this and just kept pursuing doctors and making regular trips to the Children's Hospital .

Pediatricians, Genetecists, Neurologists, Therapists and list went on and on. Just a few months back Shawn was diagnosed with Mitochondrial Disease Complex 4.


Mitochondrial diseases with associated vision and hearing losses and descriptions

There are quite a large number of Mitochondrial diseases listed on the United Mitochondrial Disease Foundation website. Some of these have various visual conditions and hearing loss associated with them. Some of the ones listed include:
Alpers Disease

Long name: Progressive Infantile Poliodystrophy.

Symptoms: seizures, dementia, spasticity, blindness, liver dysfunction, and cerebral degeneration.
Complex I Deficiency

Long Name: NADH dehydrogenase (NADH-CoQ reductase) deficiency.

Symptoms: Three major forms:

1. Fatal infantile multisystem disorder, characterized by developmental delay, muscle weakness, heart disease, congenital lactic acidosis, and respiratory failure.
2. Myopathy beginning in childhood or in adult life, manifesting as exercise intolerance or weakness. Elevated lactic acid common.
3. Mitochondrial encephalomyopathy (including MELAS), which may begin in childhood or adult life and consists of variable combinations of symptoms and signs, including ophthalmoplegia, seizures, dementia, ataxia, hearing loss, pigmentary retinopathy, sensory neuropathy, and uncontrollable movements. May cause Leigh Syndrome.

Complex III Deficiency

Long Name: Ubiquinone-cytochrome c oxidoreductase deficiency.

Symptoms: Four major forms:

1. Fatal infantile encephalomyopathy, congenital lactic acidosis, hypotonia, dystrophic posturing, seizures, and coma. Ragged-red fibers common.
2. Encephalomyopathies of later onset (childhood to adult life): various combinations of weakness, short stature, ataxia, dementia, hearing loss, sensory neuropathy, pigmentary retinopathy, and pyramidal signs. Ragged-red fibers common. Possible lactic acidosis.
3. Myopathy, with exercise intolerance evolving into fixed weakness. Ragged-red fibers common. Possible lactic acidosis.
4. Infantile histiocytoid cardiomyopathy.

Complex IV Deficiency / COX Deficiency

Long Name: Cytochrome c oxidase deficiency is caused by a defect in Complex IV of the respiratory chain.

Symptoms: Two major forms:

1. Encephalomyopathy: Typically normal for the first 6 to 12 months of life and then show developmental regression, ataxia, lactic acidosis, optic atrophy, ophthalmoplegia, nystagmus, dystonia, pyramidal signs, and respiratory problems. Frequent seizures. May cause Leigh Syndrome.
2. Myopathy: Two main variants:
1. Fatal infantile myopathy: may begin soon after birth and accompanied by hypotonia, weakness, lactic acidosis, ragged-red fibers, respiratory failure, and kidney problems.
2. Benign infantile myopathy: may begin soon after birth and accompanied by hypotonia, weakness, lactic acidosis, ragged-red fibers, respiratory problems, but (if the child survives) followed by spontaneous improvement.

CPEO

Long Name: Chronic Progressive External Ophthalmoplegia Syndrome.

Symptoms: Similar to those of KSS plus: visual myopathy, retinitis pigmentosa, dysfunction of the central nervous system.
KSS

Long name: Kearns-Sayre Syndrome.

Symptoms: Progressive external ophthalmoplegia, pigmentary retinopathy, heart block, and high cerebrospinal protein.
LCHAD

Long name: Long-Chain Hydroxyacyl-CoA Dehydrogenase.

Symptoms: Encephalopathy, liver dysfunction, cardiomyopathy, and myopathy. Also pigmentary retinopathy and peripheral neuropathy.
LHON

Long Name: Leber Hereditary Optic Neuropathy.

Symptoms: Primarily blindness in young men. Less common symptoms: mild dementia, ataxia, spasticity, peripheral neuropathy, and heart conduction defects.
MERRF

Long Name: Myoclonic Epilepsy and Ragged-Red Fiber Disease.

Symptoms: Myoclonus, epilepsy, progressive ataxia, muscle weakness and degeneration, deafness, and dementia.
NARP

Long Name: Neuropathy, Ataxia, and Retinitis Pigmentosa.


So this is still an ongoing journey for information. Please send me feedback and share your experiences with me. I would like to learn more about how others found out about Mito

Please share information and stories!

I wish you all good health and happiness!

Jeff