SPINOCEREBELLAR ATAXIA
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ALTERNATE NAMES
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SCA; Infantile-onset Spinocerebellar Ataxia; Autosomal Dominant Spinocerebellar Ataxia
(ADSCA)
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DESCRIPTION |
Spinocerebellar Ataxia (SCA) refers to a group of genetic disorders characterized by slowly progressive difficulties
with gait, hand movements, speech and abnormal eye movement. These disorders were
previously known as autosomal dominant cerebellar ataxias (ADSCA). People with SCA
have progressive damage in the areas of the brain that control movement in the arms,
legs, hands, and eyes. When this type of brain damage occurs, the cells in the part
of the brain that controls movement degenerate (atrophy) resulting in ataxia. The
prevalence of SCA’s is estimated to be about 1-4/100,000.
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DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND
ICD-9-CM/ICD-10-CM
CODING
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Diagnostic testing: Genetic testing and MRI can distinguish genetic from acquired (non-genetic) causes
of ataxia.
Physical
findings: This disorder causes a slow progression of ataxia of gait, stance, limbs, and dysarthria
(speech disturbance) with or without oculomotor (movement of the eyeball) dysfunction
due to cerebellar degeneration.
ICD-9: 334
ICD-10: G11.9
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TREATMENT |
There is currently no cure or treatment to slow the progression of SCA. Medications
can help manage the symptoms (stiffness, depression, spasticity and sleep disorders).
Occupational therapy can be helpful in developing ways to accommodate the individual
in performing daily activities such as handwriting, buttoning, and use of eating utensils.
Ambulatory aides such as canes, walkers and wheelchairs have been prescribed for gait
ataxia. Speech therapy and/or computer-based devices for those with dysarthria and
severe speech deficits.
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PROGRESSION
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The rate of progression for SCA varies with the gene mutation identified and, in general,
is faster with earlier onset or increased length of the trinucleotide expansion repeat
in those with this particular genetic finding. In SCA1, 2, and 3, time to becoming
wheelchair dependent is 13-15 years and time to death is 20-30 years. The prognosis
for SCA6 and SCA11 is less severe with a very slow worsening of symptoms, and persons
with SCA8 and SCA11 have a normal lifespan.
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SUGGESTED PROGRAMMATIC ASSESSMENT*
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Suggested MER for Evaluation:
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Clinical examination that describes diagnostic features of the impairment;
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Molecular genetic testing;
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Clinical neurological examination;
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If molecular genetic testing is not available, then a clinical neurological examination
may be sufficient to establish a medical equals determination as long as all treatable
causes of ataxia have been ruled out. It should be stated that a positive family history
supports the diagnosis of a hereditary disorder but does not rule out an acquired,
treatable disorder in a particular case.
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Suggested Listings for Evaluation:
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DETERMINATION |
LISTING |
REMARKS
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Meets
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111.17
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Equals |
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* Adjudicators may, at their discretion, use the Medical Evidence of Record or the
listings suggested to evaluate the claim. However, the decision to allow or deny the
claim rests with the adjudicator.
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