Maybe a diagnosis finally
 

I had spoken with some on this site many months ago when my brother (27 years old) suddenly had shaking symptoms.

He went thru tons of tests and weeks in the hospital. From the end of July to August he became very unsteady and started using a walker, by October he could barely walk with the walker unless he stabilizes himself on a wall. Things havent changed much since then. Most recently he was hospitalized for pulmonary embolisms. He is still being followed by doctors from all over the country.

The doctor has now mentioned he is considering RDP, (Rapid-Onset Dystonia Parkinsonism). Can anyone here give us some first hand knowledge about RDP?

His shaking is semi-controlled by the Artain, but his legs just dont want to do what they are told, and it seems the one side is twisting outwards when he walks.

We are also looking for support groups so he can get together with people to talk with, can anyone send any links directly to me? We are in NE PA. His friends have been great, picking him up and always including him in what they do.

Any input would be great.

Dear Labar,

From the"Dystonia Medical Research Foundation" web site:

Rapid-onset dystonia-parkinsonismRapid-onset dystonia Parkinsonism (RDP), a hereditary form of dystonia, is characterized by the abrupt onset of slowness of movement (parkinsonism) and dystonic symptoms.

Terms used to describe rapid-onset dystonia-parkinsonism include: DRP, DYT12 dystonia

Symptoms
The classic features of RDP include involuntary dystonic spasms in the limbs, prominent involvement of the speech and swallowing muscles, slowness of movement, and poor balance. Onset of the combined dystonic and parkinsonian symptoms can be sudden, occurring over hours to days. Some people experience seizures. RDP often follows a fever, prolonged exposure to heat or exercise, childbirth, or emotional stress. Symptoms usually stabilize in less than four weeks, after which, it is reported, there is little progression and symptoms may improve slightly. RDP usually occurs in adolescence or young adulthood (age range 15 to 45), but onset of mild dystonia-parkinsonism has been reported in individuals up to the age of 58.

Cause
Several mutations in the ATP1A3 gene (also called the DYT5 gene) are associated with RDP and inherited autosomal dominantly with reduced penetrance. This means that only one parent needs to have the gene mutation for a child to inherit the disease, but not everyone who inherits the gene mutation will develop symptoms.

Diagnosis
Diagnosis is based on neurological examination. A family history is required to distinguish the mild limb dystonia of RDP from early-onset dystonia.

Treatment
Treatment options for RDP at this time is limited and must be customized to the individual’s unique needs. Levodopa/carbidopa or dopamine agonists may provide some mild improvement in some affected individuals. Individuals may benefit from non-drug approaches such as physical therapy and complementary therapies such as regular relaxation practices.

Dystonia Support in Pennsylvania

• Southeast Pennsylvania Support Group
• Art and Bernice Hindle
• Glen Mills, PA
• 610-459-1349
• magnus@icdc.com
• Mr. Raman Patel
• West Chester, PA
• 610-431-2199
• shivapatel@comcast.net
• Central Pennsylvania Support Group
• Violet Klinger
• Middleberg, PA
• 570-837-0457
• vikling@evenlink.com
• Pittsburgh Area Support Group
• Michele Santillo-Steri
• Monaca, PA
• 724-775-8814
• mischsanti@comcast.net

Peace to you,
Vicky