ataxia; dyssynergia
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Introduction
A disorder in which muscles fail to move in a coordinated fashion. (also see balance disorder)
Etiology
- acute onset:
- stroke involving cerebellum, brainstem &/or thalamus
- toxin or medication-induced
- subacute onset
- inherited degenerative disorders
- systemic disorders
- metabolic disorders
- mitochondrial disorders
- abnormal amino acid metabolism
- abnormal organic acid metabolism
- urea cycle defects
- vitamin & cofactor deficiencies
- enzyme deficiencies
- hexosaminidase deficiency
- gamma-glutamyl cysteine synthetase deficiency
- glutamate dehydrogenase deficiency
- disorders of lipid metabolism
- abetalipoproteinemia & hypobetalipoproteinemia
- Refsum's disease
- cerebrotendinous xanthomatosis
- hypothyroidism (rare, reversible)
- DNA repair disorders
- inflammatory autoimmune disorders
- infections
- metabolic disorders
- sensory ataxia
- cerebellar ataxia
- spinocerebellar ataxia
- miscellaneous disorders
Pathology
- most adult-onset chronic ataxia syndromes involve cerebellar degeneration[3]
Physical examination
- tandem walk
- finger-to-nose
- rapid-alternating movements
- heel-to-shin
- inability to tap two objects 12 inches (30 cm) apart 32 times in 15 seconds (90% sensitivity, 90% specificity)
Clinical manifestations
Laboratory
- serum vitamin levels
- thyroid function studies
- cerebrospinal fluid (CSF) analysis
- serology
- genetic analysis
Radiology
- MRI neuroimaging
- cerebellar & brainstem atrophy generally seen with with adult-onset chronic ataxia syndromes[3]
Management
- No proven therapies for spinocerebellar ataxias (SCA) 1-5
- Identify treatable disorders
- malignancies
- vitamin deficiencies
- drug & alcohol toxicity
- infections
- hypothyroidism
- metabolic disorders
More general terms
More specific terms
- Brown-Marie syndrome
- cerebellar ataxia (cerebellar syndrome, cerebellar dysmetria)
- gait ataxia
- sensory ataxia
- spinocerebellar ataxia (SCA)
- truncal ataxia
Additional terms
References
- ↑ Harrison's Principles of Internal Medicine, 13th ed. Companion Handbook, Isselbacher et al (eds), McGraw-Hill Inc. NY, 1995, pg 2284-85
- ↑ Harrison's Principles of Internal Medicine, 14th ed. Fauci et al (eds), McGraw-Hill Inc. NY, 1998, pg 2263-67
- ↑ 3.0 3.1 3.2 Medical Knowledge Self Assessment Program (MKSAP) 16 American College of Physicians, Philadelphia 2012