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By Starla Brewer, student
Simply put hereditary ataxia is defined as the inability to maintain muscle control and smooth movement as a result of some kind of genetic abnormality. However few things are this simple and Machado Joseph Disease is one of them. Machado Joseph disease is something my husband’s family has dealt with for many years and I have researched diligently over the course of 15 years. When I was given the assignment to choose a pathology and write a blog about the effects of massage therapy on that pathology I knew immediately what my subject matter would be. I thought with all of the advancements in the past 5 years since the last time (and death of my husband’s last remaining sibling we had contact with) I had done any real research. I also thought with the fast growing interest in complementary medicine modalities and insurance companies now paying for treatments such as massage therapy and acupuncture I would find some information. How sorely wrong I was! Yes, great advances have been made in diagnosis and identifying the cause of this as well as all other forms of hereditary ataxias including DNA testing.
Machado-Joseph Disease- also known as Type 3 spinocerebellar ataxia is a dominantly inherited progressive, often fatal form of ataxia. People with MJD have difficulty with speech and eventually swallowing. Their gait is a lurching staggering with lack of balance that makes them appear to be drunk. Some can develop symptoms resembling those of Parkinson’s disease. The symptoms of MJD can have a very wide range due to the repeated expansion of the the ATXN3 gene. MJB is one of about 30 autosomal dominant inherited ataxias. There are three subtypes of these ataxias listed as fallows in article Machado-Joseph Disease: from first descriptions to new perspectives By: Conceição Bettencourt and Manuela Lima at Orphanet Journal of Rare Diseases. “these subtypes can be divided into three major categories: 1) "polyglutamine" ataxias, caused by CAG repeat expansions that encode a pure repeat of the amino acid glutamine in the corresponding protein; 2) non-coding repeat ataxias, caused by repeat expansions falling outside of the protein-coding region of the respective disease genes; and 3) ataxias caused by conventional mutations in specific genes (deletion, missense, nonsense, and splice site mutations)”. While onset, life expectancy, neuroligcal signs and the degree of incapacity can very widely they all have in common the degeneration of the cerebellum and resulting loss of muscle control. With only 1-5:100,000 people having one of these ataxias there have been few treatment studies done. The focus has been identification and diagnosis testing leaving very little information about treatment. For this reason I am addressing them as a whole.
Until recently western medicine has done very little to address treatment. Typical treatment plans have been focused on drugs to reduce spasticity and rigidity of muscles, with supportive care using assistive devises such as canes, walkers and wheelchairs and occasionally physical therapy. A case report published in the International Journal of Therapeutic Massage & Bodywork titled Gait Characteristics, Range of Motion, and Spasticity Changes in Response to Massage in a Person with Incomplete Spinal Cord Injury: Case Report drew the fallowing conclusion “Positive changes in gait speed, stride length, and swing and stance phase percentages were observed in one person with incomplete AIS(D) SCI after specific application of MT. Further study is war- ranted to determine the extent to which massage may affect musculoskeletal and neural impairments that limit gait in people with incomplete SCI, and the methods or routines that, when applied, will yield the most benefit. “. I have talked to family members with MJD and people with these ataxias in forums. Many have been told nothing of massage or that massage would be ineffective or have other pathologies that make massage contra indicated. Those that have tried massage focus only on a general relaxation and pain management. Of those who reported using massage to relax the results varied widely. Most felt a short lived relief of muscle rigidity and spasms lasting up to 72 hours after the massage. One said they found a 30 minute head and neck massage seemed to improve their balance and ability to focus on muscle control.
Thomas L. Clouse M.D. who has Spinocerebellar Ataxia (SCA-14) has come up with some very promising results using exercise and positive thought processes. And offer the most advice I have found thus far with detailed descriptions of how people with ataxia can’t slow dow the progression of the disease but, can maintain mobility and a higher quality of life longer. I am going to continue researching this topic and will update when more information of how massage can affect those with hereditary ataxias.
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