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Spino cerebellar Ataxia Type 3 (SCA3)/ Machado-Joseph Disease (MJ D)
What is spinocerebellar ataxia type 3?
Spinocerebellar ataxia type 3 (SCA3), also known as Macliado-Joseph disease (MJD), is one type of ataxia among a group of
inherited diseases of the central nervous system. As in many of the inherited ataxias, SCA3 results from a specific genetic defect that leads to impairment of nerve cells in the brain and nerve fibers carrying messages to and from the brain. In SCA3, the impairment of nerve cells and nerve fibers results in degeneration of the cerebellum (the coordination center of the brain) and related brain regions.
What are the symptoms of SCA3?
The word ataxia means incoordination. As in other forms of inherited ataxia, SCA3 is marked by incoordination. Impaired balance is usually the first symptom, followed later by incoordination of the hands and slurring of speech. Some individuals with SCA3 will notice double vision, and an examining physician might note limitation of eye movements, abnormally slow eye movements, or a “staring” appearance of the eyes. As the disease progresses, it is common to experience spasticity, rigidity, loss of muscle bulk and strength, and slowness of movement. In general, SCA3 symptoms tend to be more wide-ranging than those in many other forms of ataxia. The age of onset and the range of symptoms can vary widely in SCA3, even among affected persons in the same family. This variability reflects the type of disease-causing genetic defect in SCA3: an expansion of a DNA triplet repeat. The repeat expansion in SCA3 varies in size among affected persons. In general, the longer the repeat the more powerful the effect of the mutation, resulting in earlier onset disease. The greater the expansion, the more seveie the disease is likely to be.
What is the prognosis for SCA3?
The symptoms of SCA3 usually appear in middle adult life and progress over several decades, with some patients surviving for almost 30 years after lhe onset of symptoms. Onset in adolescence or as late as age 70 also can occur. This extreme range in age of onset reflects differences in the size of the disease-causing DNA repeat.
How is SC/3 acquired?
SCA3 is a genetic disorder, which means that it is an inherited disease. The abnormal gene responsible for this disease is passed from generation to generation by family members who carry it. Genes are heritable microscopic structures that comprise our genetic makeup and contain instructions for the features a person inherits from his or her parents. Genetic dis- eases like SCA3 occur when there is an abnormal change or mutation in the DNA that makes up one of the body’s approximately 25,000 genes. In SCA3, the mutation is an expansion of a DNA triplet repeat in the ATXN3 gene. Genes are made up of molecules known as nucleotides linked together in highly ordered chains. Each nucleotide is identified by one of four letters (C,A,G, or T). In SCA3, the mutation results in extra copies of a triplet repeat of the nucleotides C-A-G. Thus SCA3 is due to a CAG repeat expansion. SCA3 is inherited in a dominant fashion, which means that it passes directly from one generation to the next without skipping generations. Each child of a person with SCA3 has a 50 percent chance of inheriting the disease gene that causes SCA3. Individuals of either gender are equally likely to inherit the gene and develop the disease.
This letter is sent from Vic's Dr. @
Saint Charles Hospital
200 Belle Terre Rd, Port Jefferson NY, 11777
(631) [phone redacted]
To whom it may concern:
Victor is a 51-year-old male who has a diagnosis of Cerebellar ataxia type 3, resulting in quadriplegia, ataxia, poor motor control, decreased swallowing, spasticity and postural deformities. His PMII includes: OA, severe pain and limitations left shoulder, seizures controlled by mods last seizure 4 years ago, edema bilateral lower extremities, and neck and back pain 7/10. At this time, he presents with quadriplegia, poor trunk strength, significant postural deformities, significant shoulder left 7/10, back pain 5-6/10, and bilateral L.E. edema. Victor is not a functional ambulatory, he can take a few steps with min assistance x I or 2 people but is very ataxic and has poor standing balance, and he has a history of multiple falls_ He requires moderate assistance for most ADL's and self-care secondary to weakness, ataxia non -functional left 'ILE. He requires a power wheelchair to access his bedroom, bathroom and living areas. He is not able to use any manual wheelchair, even an ultimately configured ultra-light weight wheelchair due to UE weakness and postural compromise. He is not able to utilize a scooter; secondary to severe weakness/ ataxia of bilateral U.E.'s, his inability to transfer from it safely and because it does not provide power scat functions he requires. He requires powered mobility for independent mobility within his home environment and power seat functions for pain control, pressure relief in order to maintain his skin 'integrity, postural stability, edema control and improved respiration. He is cognitively intact and is willingly requesting powered mobility at this time_
Victor lives in a private home with his mother the first floor is wheelchair accessible; be has 8 hours of HHA help M-F and 5 hours on the weekends. His home is wheelchair accessible. He is currently seated in a Drive MWC that he is dependent in both mobility and pressure relief. Victor requires a power wheelchair with power seat functions to allow him to be independent with mobility and to enable to independently change his position; he has a history of stage l sacral pressure ulcers and a current stage sacral pressure ulcer. Power seat functions are required for edema control, pain management, and postural stability, pressure relief, and improved respiration. Victor is a young and active full-time wheelchair user and with these features be will be independent with pressure relief throughout the day so that is not required to be transferred to bed to accomplish pressure relief and postural control. Victor spends between 14 and 16 hours a day in his wheelchair, right now in a completely inappropriate chair.
Victor's physical evaluation reveals the Following:
Victor Requires a cushion that will accommodate to his position as he shifts, never causing too much pressure in one area. He requires a cushion that will adapt to his existing postural deformities and support his pelvic in combination with the back to prevent future deformity. The cushion is the least costly alternative that will provide both positioning and pressure relief and allow us to adapt to his postural deformity. Victor has a history of multiple stage I pressure ulcers.
Trial of Equipment: Victor was able to trial the wheelchair with the power seating system and he was independent in its use with the controls within his home and vehicle. He is cognitively intact and both willing and able to independently use the chair.
Alternative Considered: We have already discussed previously in the letter why all ambulation devices, manual mobility and POV's were not appropriate for Victor. We ruled out less costly seating because of his multiple postural deformities and high risk of future pressure ulcers.
Victor's entire evaluation and prescription was completed with Lois Tucker, OTR/I., ATP, CRTS, a RESNA Certified assistive technology practitioner from Home Medical Equipment present and involved in the recommendations made.
We urge you to approve this equipment It is vital to Victor's safety and health, which is presently compromised by his poor positioning. Please feel free to contact us should you have any questions or concerns at 516- [phone redacted].
Thank you for your immediate attention.
I agree with the clinical finding and mobility recommendations made by the evaluating therapist.
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