Question Title: Looking for families that are dealing with OPCA

To whom it may concern:

My husband who is 58, was diagnosed with OPCA this past March. We have had the genetic testing done and it was said that is did not show any genetic connetion. It was explained that it just sort of happened and that it sometimes shows up in mid-life.

Where we live, there is no type of support group or anyone that we know of to help get one started. I know that this is a rare disease and have obtained info from the Organization of Rare Brain Disorders. Unfortunately that costs money. They did send some info, but it was generic.

We would greatly appreciate any help in trying to form a support group or become in contact with other families that are going through or have gone through this awful disease.

Through retrospect, we have determined that my husband has had symptoms for about 6 yrs or so. His speech, handwriting and balance have been greatly affected. He is also starting with slight tremors. Any info would be greatly appreciated.

Dear Jeannette:

Sorry that you have had such problems. Orphan diseases are difficult in many ways and you have experienced most of them. Let me go over the diseases of the olivopontocerebellar atrophy type I. (Just in case no one explained the spectrum of diseases). The olivopontocerebellar degenerations have their onset from adolescence to 65 years of age. They are divided into three genotypes. Sininocerebellar atrophy type 1, type 2, and ty 3. SCA 1 is the only type that may have onset before age 20. The genotype is a trinucleotide repeat on chromosome 6. Paternal transmission is associated with larger repeat size and earlier onset of symptoms. SCA 2 and SCA3 have adult onset and the abnormal gene sites are on chromosome 12 and 14, respectively.

Type 1 is invariably present and is usually the initial feature. Gait ataxia, dysmetria, dysdiadochokinesia, finger-nose ataxia (these are clumpsy movements when attempting to move to pick up an object or walk) and decomposition of movement are present. Patients with childhood onset often have mental retardation and seizures, tendon reflexes are exaggerated and the plantar response is usually extensor. Optic nerve atrophy is constant finding in some families. Other variable features include mystagmus, dysarthria, decreased pupillary response, ptosis, and impaired position sense. Type 3 is thought to have originated in Portuguese-Azorean populations and was transmitted worldwide by Portuguese sailors (thought you would like to know that fact). The age of onset appears to be earlier with each generation and onset during adolescence is relatively common. This disease is characterized by a degeneration of all motor systems. The initial symptom is usually ataxia. Unsteadiness of gait is followed by dysmetria of the hands. Dystonia is somewhat more common than aaxia as the initial feature in children. Bulging eyes are a characteristic, but not constant, early feature of the disorder. Multimotor system degeneration eventually develops in all cases.
Type 3 is not very well remembered in my mind, so I will forgo it.

That is the way I learned these disorders in medical school. Now, we are thinking that there is a spectrum of diseases that present as a form of Parkinson-like diseases and are classified as Multiple System Atrophy. Within this class of diseases falls the adult forms of olivopontocerebellar degenerations. Confused, it is confusing as the area is currently evolving. There is a sporadic form of OPCA in adults (sounds like the form you describe) that the age of onset is 49 up to 55 as an average. This form has Parkinson like symptoms with rigidity, bradykinesia, orthostasisn bladder problems, respond to L dopa, tremor, dyskinesia and dystonia and cognitive dysfunction.

So, that is why you are likely having problems finding support groups. The sporadic adult form would be classified under multiple system atrophy or Parkinson-like diseases. If you go onto the internet, I bet you would find support groups within these categories. With all the current reshuffling of categories of diseases, you can understand the problem. I hope this helped, if you still have problems, let me know.

Sincerely,

CCF Neuro[P] MD, RPS