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Results for “Muscle Denervation”

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PubMed1980

Myasthenia gravis: antibodies to acetylcholine receptor with human and rat antigens.

Serum antibodies to acetylcholine receptors (AChR) in myasthenia gravis were surveyed by radioimmunoassay, using 125I-alpha-bungarotoxin-complexed receptors of human muscles and denervated rat muscles. Antibodies were detected more frequently with human AChR than with rat AChR. Furthermore, antibody titers to human AChR were not always parallel to titers observed in the rat receptors, indicating the heterogeneity of antibody specificities in different individuals. Correlation between antibody titers and clinical severity was better when the antibody concentration was determined with human AChR. About 90% of the myasthenic sera contained antibodies to AChR, and 40% also contained other antibodies such as thyroid autoantibodies. These findings suggest that myasthenia gravis is a multiple immunopathy.

Acetylcholine↗
PubMed1991

[Machado-Joseph disease: description of 5 members of a family].

The authors report the clinical and laboratorial findings of 5 affected members (all males) of a family with Machado-Joseph disease. The mode a inheritance was autosomal dominant. The mean onset age was 38 years (range 30-50 years). The clinical picture was pleomorphic and included cerebellar ataxia, external ophthalmoplegia with bulging eyes, extrapyramidal/pyramidal syndromes, amyotrophy with fasciculations and peripheral neuropathy, in variable degrees of severity. In one patient parkinsonian rigidity was greatly improved with the use of trihexaphenidyl and L-dopa. CT scan examinations disclosed a variable degree of cerebellar atrophy, with mild cerebral atrophy in one patient. Brainstem evoked potentials were normal in two patients. EMG showed denervation in three patients. Muscle biopsy (gastrocnemium) with histochemical studies revealed chronic muscle denervation in four cases. Sural nerve biopsy with conventional pathological study was normal in four cases. This family was living in Florianopolis, Santa Catarina, where there is a great number of Portuguese descendants from the Azores Islands. The worldwide presence of the disease seems to result from the genic diffusion of the disease with the Portuguese emigration during the Great Navigations Era and with some later emigratory settlement.

Adult↗