Miopatias distais: análise clínica, laboratorial, eletromiográfica, histológico-histoquímica de oito casos

Werneck, Lineü Cesar; Marrone, Carlo Domênico; Scola, Rosana Hermínia

doi:10.1590/s0004-282x1993000400009

Cited by 3 publications

(4 citation statements)

References 24 publications

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“…The absence of dysferlin in muscle confirm the diagnosis of MM. In Brazil 2 and Latin America there are only five cases described of MM. We think that in patients with hereditary distal muscle weakness it is mandatory to perform genetic tests and muscle biopsy with immunohistochemical techniques.…”

Section: Discussionmentioning

confidence: 99%

“…Myopathies usually present weakness and proximal atrophy 1,2 , involving mainly pelvic and escapular muscles. However, there is a group of rare myopathies with different characteristics that affect specially distal muscles.…”

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confidence: 99%

“…Miyoshi myopathy involves mainly distal and posterior leg muscles, with an early onset and an autosomic recessive inheritance. This myopathy was first described in Japan, in 1967, by Miyoshi and col. 2,4 . It occurs mainly in young adults between 15-30 years old.…”

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confidence: 99%

“…It has an autosomic recessive transmission, with complete penetrance. Difficulty in tiptoeing and climbing stairs is the initial symptom, with involvement of gastrocnemius and soleus muscles 2,5 . There is a slowly progressive weakness and the proximal muscles may be involved lately 3,6,7 .…”

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Myopathy of distal lower limbs: the clinical variant of Miyoshi

Soares

Freitas

Nascimento

et al. 2003

Arq. Neuro-Psiquiatr.

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-Miyoshi distal dystrophy is a rare myopathy characterized by an autosomal recessive pattern of inheritance and it is prevalent in Japan. Onset of disease is in early adult life with weakness and atrophy of the leg muscles. Recently gene linkage to chromosome 2p12-14 has been established. We report three sisters, born of consanguineous parents. All of them noticed weakness and atrophy of leg muscles, and could not walk on their heels. In all of them the creatine kinase concentrations were very high. The electromyography showed myopathic patterns and the muscle biopsy disclosed dystrophic changes and an absence of dysferlin. There are few cases reported of Miyoshi distal dystrophy in Latin America. The Miyoshi myopathy may be distinct among the hereditary distal myopathies.KEY WORDS: distal muscular dystrophy, myopathy, Miyoshi myopathy, dysferlin. Miopatia distal dos membros inferiores: variante de MiyoshiRESUMO -A distrofia muscular de Miyoshi é doença rara, descrita inicialmente no Japão e de herança autossômica recessiva. Caracteriza-se por fraqueza e atrofia muscular acometendo inicialmente e às vezes exclusivamente a musculatura do compartimento posterior das pernas, com evolução lentamente progressiva. Recentemente verificou-se alteração genética no cromossomo 2p-12-14. Referimos a três pacientes do sexo feminino, irmãs e filhas de pais consangüíneos de primeiro grau. Todas apresentaram como sintoma inicial fraqueza nas pernas com dificuldade para andar, sobretudo na ponta dos pés. A flexão dorsal dos pés estava preservada. Todas exibiam níveis elevados de creatinoguinase. A eletromiografia em todas mostrou padrão miopático. A biópsia muscular revelou alteração da disferlina. Poucos casos de miopatia de Miyoshi são relatados na América Latina. Realçamos seus critérios diagnósticos necessários para o diagnóstico desta afecção dentre as miopatias geneticamente determinadas. PALAVRAS-CHAVE: distrofia muscular distal, miopatia, miopatia de Miyoshi, disferlina.

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Myopathy of distal lower limbs: the clinical variant of Miyoshi

Soares

Freitas

Nascimento

et al. 2003

Arq. Neuro-Psiquiatr.

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Toward an objective measure of functional disability in dysferlinopathy

et al. 2015

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Distal myopathy with rimmed vacuoles and cerebellar atrophy

Merkli

Pál

Gáti

et al. 2006

Pathol. Oncol. Res.

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Distal myopathies constitute a clinically and pathologically heterogeneous group of genetically determined neuromuscular disorders, where the distal muscles of the upper or lower limbs are affected. The disease of a 41-year-old male patient started with gait disturbances, when he was 25. The progression was slow, but after 16 years he became seriously disabled. Neurological examination showed moderate to severe weakness in distal muscles of all extremities, marked cerebellar sign and steppage gait. Muscle biopsy resulted in myopathic changes with rimmed vacuoles. Brain MRI scan showed cerebellar atrophy. This case demonstrates a rare association of distal myopathy and cerebellar atrophy.

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Miopatias distais: análise clínica, laboratorial, eletromiográfica, histológico-histoquímica de oito casos

Abstract: RESUMO -

Cited by 3 publications

References 24 publications

Myopathy of distal lower limbs: the clinical variant of Miyoshi

Myopathy of distal lower limbs: the clinical variant of Miyoshi

Toward an objective measure of functional disability in dysferlinopathy

Distal myopathy with rimmed vacuoles and cerebellar atrophy

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