INHERITED WHIPPLE FAMILY DISEASE
Researchers in the Department of Neurology at the University of Medicine and Dentistry of New Jersey have determined that some members of the Whipple family suffer from a disease known as Machado-Joseph Disease (MJD). MJD is also known as Spinocerebellar Ataxia 3 (SCA3), so named because it was the third of many such ataxias to be identified. “Ataxia” is a general term referring to lack of muscle control.
Characteristics:
MJD is characterized by clumsiness and weakness in the arms and legs, spasticity (continuous, uncontrollable muscle contractions), a staggering lurching gait (easily mistaken for drunkenness), difficulty with speech and swallowing, involuntary eye movements, double vision, and frequent urination. Some patients have ystonia (sustained muscle contractions that cause twisting of the body and limbs, repetitive movements, abnormal posture, and/or rigidity) or symptoms similar to those of Parkinson’s disease. Others have twitching of the face or tongue, or distinct bulging eyes. Almost all MJD patients experience vision problems, including double vision (diplopia) or blurred vision, loss of ability to distinguish color and/or contrast, and inability to control eye movements.
Genetics:
MJD is an inherited, autosomal dominant disease (one affected arent can pass it to the child). People with a defective gene have a 50 percent chance of passing the mutation to each child. If a child inherits the defective gene, s/he will develop symptoms of the disease. The disease belongs to a class of genetic disorders called triplet repeat diseases in which there is an extensive abnormal repetition of three letters of the DNA genetic code. In MJD, the code “CAG” is repeated within a gene located on chromosome 14q. The gene produces a mutated protein called
ataxin-3, that accumulates in certain cells of the brain. These protein accumulations interfere with the normal operation of cells, causing them to degenerate and die.
Treatment:
While MJD is incurable, many of its symptoms can be treated. The drug Levodopa can help patients who show Parkinson features. Antispamodic drugs such as baclofen can help reduce spasticity; Botulinum toxin (which can have severe side affects) is used to treat severe spasticity as well as some symptoms of dystonia. Speech problems (dysarthria) and dysphagia (difficulty in swallowing) can be treated with medication and speech therapy. Wearing prism glasses can reduce blurred or double vision. Eye surgery has short-term benefits because of the progressive degeneration of eye muscles. Physiotherapy can help cope with disability caused by gait problems and physical aids, such as walkers and wheelchairs, can assist with everyday activities. Problems such as sleep disturbances, cramps, and urinary dysfunction can also be treated with medications and medical care.
Diagnosis:
MJD is usually diagnosed by a neurologist, after s/he does a thorough clinical examination. Even in a person who has a positive family history for MJD, it is possible for other things to cause confounding symptoms. Fortunately, a definitive diagnosis can now be made with a simple genetic test.
Research:
Because MJD is only one of a large category of triplet repeat diseases, there is much research aimed at understanding the mechanism of disease development, as well as approaches to possible treatments. And it is reasonable to presume that a treatment breakthrough developed for any one of these disorders would have immediate positive effect on another.
Further Information:
For information on MJD and other neurological disorders, research programs funded by NIH, or information on ongoing studies for which one may qualify, see the National Institute of Neurological
Disorders and Stroke’s Brain Resources and Information Network at: BRAIN, P.O. Box 5801. Bethesda, MD 20824, (800) 352-9424
http://www.ninds.nih.gov
For additional information on ataxias, a fact sheet on SCA3, ongoing research programs, or family support, contact the National Ataxia Foundation (NAF), 2600 Fernbrook Lane North, Suite 119,
Minneapolis, MN 55447-4752, naf@ataxia.org, Tel: 763-553-0020, Fax: 763-553-0167. http://www.ataxia.org
February 16th, 2008 at 6:15 am
So I found this VERY interesting. My grandfathers hands shake, it has gotten worse as he has gotten older but he began when he was about high school age, he is also color blind. Just thought I would post this and see if anyone else has had similar things in their family.
February 16th, 2008 at 11:30 am
Danielle,
Be sure to get additional information from the listed resource sites.
August 15th, 2008 at 12:13 am
Goodness, my neurologist will be interested I am sure! I don’t know any of my father’s family and he died when I was 6, so any medical history on that side is completely lost. In fact, didn’t know I was a Whipple (one of the descendants of “Captain John”) until today!
February 13th, 2009 at 6:56 pm
I am from a LONG line of Whipples. My grandfather had this disease as well as his sister. They got it from their father. His father had 12 brothers and sisters and 6 of them had it as well. They very rarely talked about it and many decided not to even reproduce. Recently my mom started showing symptoms of the disease so we went to a neurologist at the ohio state university and found out that my grandfather and his sister went to OSU many times and the doctors from New Jersey flew into “study” them if you will several times. It was kind of weird to see all the records from those visits, because we really had no idea what the details of the disease were. It sucks there is no cure. But the neurologist gave us my mom many balance exercises and leg strengthening exercises, that even I at my young age will begin just incase I have the disease as well.
September 11th, 2009 at 11:00 pm
I think I only have m.s. after reading this know I have some other thoughts. The past few months I know I had vertigo and other weird things happen to me that I can not explain. But now I have some things to talk to my neurologist thank you so much
April 23rd, 2010 at 10:08 pm
i am related to the whipples only by marriage. all but one of my cousins aunts or uncles have passed away. now my two whipple cousins have been officially diagnosed with the disease and they have three children apiece. they are 50 and under. i have known about this disease for most of my life because my uncle was very was sick with the disease and his father also was sick with the disease and they both died. now i am unfortunately watching my cousins suffering.
i am trying to find a old friend whose mother had the disease when i met him in the early 70′s, she was already in a wheelchair. her maiden name was whipple but her married name was fuller. my friend’s name is michael fuller and he is probably around 60 to 65 years old. do you know anything about him and if you do how can i get in touch with him. i have been searching for a long time to find him and see how he is and if the disease passed him over. my name is melanie wellman my maiden name was jones. mike fuller was from columubs ohio as i am and i still believe that he is in this area. can you help me in anyway find my old friend. i can’t tell you how much it would mean to me.