Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0013421 (dystonia)
 8,418 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Machado-Joseph disease or spinocerebellar ataxia 3 (MJD/SCA3) is a clinically heterogeneous, neurodegenerative disorder characterized by varying degrees of ataxia, ophthalmoplegia, peripheral neuropathy, pyramidal dysfunction and movement disorder. MJD/SCA3 is caused by a CAG repeat expansion mutation in the protein coding region of the ATXN3 gene located at chromosome 14q32.1. Current hypotheses regarding pathogenesis favor the view that mutated ataxin-3, with its polyglutamine expansion, is prone to adopt an abnormal conformation, engage in altered protein-protein interactions and aggregate. Expanded CAG repeat length correlates with the range and severity of the clinical manifestations and inversely correlates with age of disease onset. Though MJD/SCA3 is classically described as affecting the cerebellum, brainstem and basal ganglia, recent neuropathology and neuroimaging series demonstrate involvement of other areas such as the thalamus and cerebral cortex. Clinically, much emphasis has been placed in the description and recognition of the non-motor symptoms observed in these patients, such as pain, cramps, fatigue and depression. Currently, no disease modifying treatment exists for MJD/SCA3. Standard of care includes genetic counseling, exercise/physical therapy programs, and speech and swallow evaluation. Symptomatic treatment for clinical findings such as depression, sleep disorders, parkinsonism, dystonia, cramps, and pain is important to improve the quality of life for those with MJD/SCA3.
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PMID:Caring for Machado-Joseph disease: current understanding and how to help patients. 1981 45

Spinocerebellar ataxia 3 (SCA3), also known as Machado-Joseph disease (MJD) is an autosomal dominant, progressive neurodegenerative disorder. Patients present with cerebellar ataxia, dystonia, rigidity, and neuropathy that worsen with time. On a molecular level, it occurs due to a CAG trinucleotide repeat expansion in the ATXN3 gene. Due to the risk of pulmonary aspiration, hypoventilation, autonomic and thermoregulatory dysfunction, vocal cord paralysis, progressive paraplegia, parkinsonian symptoms, and chronic pain, it has significant anesthesia implications. Rarely, case reports occur in the literature describing regional anesthetic management of patients with SCA3, but none that describe general anesthesia specifically with MJD. We therefore describe a case of a patient with SCA3 who successfully underwent general anesthesia and considerations for perioperative management of this patient population.
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PMID:Sentinel Node Biopsy and Lumpectomy in a Patient with Machado-Joseph Disease. 3193 55