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Arquivos de Neuro-Psiquiatria

Print version ISSN 0004-282X

Arq. Neuro-Psiquiatr. vol.51 no.4 São Paulo Nov. 1993

https://doi.org/10.1590/S0004-282X1993000400009 

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

 

Distal myopathies: clinical, laboratorial, electromyographic and histochemical study of eight cases

 

 

Lineu C. WerneckI; Carlo D. MarroneII; Rosana H. ScolaIII

IServiço de Doenças Neuromusculares, Especialidade de Neurologia, Hospital de Clínicas da Universidade Federal do Paraná (UFPR): Professor Titular de Clínica Médica (Neurologia)
IIServiço de Doenças Neuromusculares, Especialidade de Neurologia, Hospital de Clínicas da Universidade Federal do Paraná (UFPR): Residente de Doenças Neuromusculares
IIIServiço de Doenças Neuromusculares, Especialidade de Neurologia, Hospital de Clínicas da Universidade Federal do Paraná (UFPR): Médica Neurologista

 

 


RESUMO

As miopatias distais são entidades raras e de difícil classificação. Descrevemos oito casos de miopatias distais, cinco do sexo masculino e três do feminino, em que, o início dos sintomas ocorreu aos 10 anos em cinco e aos 20 em três. O início dos sintomas se deu na musculatura distal dos membros inferiores e a seguir dos membros superiores, posteriormente afetando as porções proximais dos quatro membros. As enzimas séricas de origem muscular mostraram discreta elevação em cinco casos, moderada em um e importante em dois. As eletromiografias sugeriram miopatia primária em quatro, desinervação em dois e era de tipo neuromiopático em outro. As biópsias musculares revelaram sinais de envolvimento misto (miopatia e desinervação) em dois casos, miopatia crônica ativa em cinco e miopatia crônica em um. Quatro casos apresentavam vacúolos com conteúdo positivo na fosfatase ácida, em dois do tipo marginado. Seis casos mostraram importante aumento focal da fosfatase ácida, sugerindo patogenia com importante participação lisosomal. Dois dos casos foram classificados como miopatia distal autossômica recessiva variante de Welander; dois, como autossômica recessiva tipo Miyoshi; dois, como autossômica recessiva com vacúolos marginados (Myzuzawa e Nonaka); e dois, na classificação de miscelânea.

Palavras-chave: miopatias distais, distrofias musculares distais, miopatia com vacúolos marginados.


SUMMARY

Distal myopathies are uncommon diseases presenting difficulties in the classification by the lack of sufficient knowledge on pathogenesis. We describe eight cases of distal myopathies (five male and three female patients) whose symptoms started at the age of 10 in five and 20 in three. Symptoms started in the distal muscles of lower limbs, following decreased strength in the distal portion of upper limbs, and later on involvement of proximal muscles. Serum enzymes increase was slight in five, moderate in one, and important in two. EMG suggested primary myopathy in four, denervation in two, and was mixed type in another. Muscle biopsies showed features of myopathy and denervation in two cases, active chronic myopathy in five, and chronic myopathy in another. Four cases had vacuoles with positive acid phosphatase reaction and in two cases rimmed vacuoles were found. Six cases had increase of focal phosphatase acid in the muscle fibers suggesting a lissome participation in the pathogenesis of the disease. Two cases were classified as recessive autosomal distal myopathy (Welander variant), two recessive autosomal (Miyoshi type), two autosomal recessive with rimmed vacuole (Myzuzawa and Nonaka type), and two as miscellany type.

Key words: distal myopathies, distal muscular dystrophy, distal myopathy with rimmed vacuoles.


 

 

Full text available only in PDF format.

Texto completo disponível apenas em PDF.

 

 

Agradecimentos — Agradecemos a Sumico Naskawa e Angela Chiquito, pelo auxílio técnico nas preparações histológicas.

 

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Aceite: 14-maio-1993.

 

 

Prof. Lineu Cesar Werneck — Serviço de Doenças Neuromusculares, Hospital de Clínicas, UFPR - Rua General Carneiro 181, 3º andar - 80060-900 Curitiba PR - Brasil.
Trabalho realizado no Serviço de Doenças Neuromusculares, Especialidade de Neurologia, Hospital de Clínicas da Universidade Federal do Paraná (UFPR)

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