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Arquivos de Neuro-Psiquiatria

Print version ISSN 0004-282X

Arq. Neuro-Psiquiatr. vol.52 no.3 São Paulo Sept. 1994

https://doi.org/10.1590/S0004-282X1994000300020 

Mioclonia essencial hereditária: relato de uma família

 

Hereditary essencial myoclonus: report of a family

 

 

Rosana S.C. Alves; Egberto R. Barbosa; João Carlos P. Limongi; Luciano J.B. Silva

Ambulatório de Distúrbios do Movimento da Clínica Neurológica do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (FMUSP)

 

 


RESUMO

Tem sido descrita na literatura a ocorrência de movimentos mioclônicos e distônicos como expressão isolada de uma condição neurológica de caráter hereditário. Para essa entidade alguns autores propõem a denominação "distonia mioclônica hereditária", enquanto outros preconizam o uso da expressão "mioclonia essencial hereditária". O presente relato refere-se a uma família em que essa peculiar associação de movimentos anormais acometia diversos membros em três gerações. O propósito é uma paciente de 14 anos com movimentos distônicos instalados aos 7 anos e mioclonias aos 13 anos, com evolução lenta e tendendo à estabilização. Não havia referência a melhora sob ação do álcool (paciente abstêmia). A história familiar mostrava outros casos semelhantes. A investigação complementar (dosagens sericas de cobre, ceruloplasmina, T3, T4, TSH; pesquisa de acantócitos; exame do LCR; tomografia e ressonância do segmento cefálico) não revelou anormalidades. O quadro foi satisfatoriamente controlado com clonazepam na dose de 3 mg/dia.

Palavras-chave: mioclonia essencial, distonia mioclônica, mioclonia hereditária.


SUMMARY

The occurrence of myoclonic and dystonic movements as an isolated expression of a neurologic condition of hereditary pattern have been scarcely described in literature. For this entity some authors proposed the denomination "hereditary myoclonic dystonia" while others prefer the use of the expression "hereditary essential myoclonus". We present a family in which this unusual association of abnormal movements affected several members in three generations. The propositus patient is a 14-year-old girl who have noticed the dystonic movements by 7 years of age and the myoclonic ones by 13 years of age, with a slow progression. There was no reference about the effect of alcohol (abstemious patient). There was a family history of similar cases. The suplementary investigation (seric dosage of cupper, ceruloplasmine, T3, T4, TSH; acanthocytes search; CSF examination; CT scan and MRI of the head) did not show any abnormality. Clonazepam was the only medication that lead to a clinical improvement, reducing both movements.

Key words: essential myoclonus, mioclonic dystonia, hereditary myoclonus.


 

 

Texto completo disponível apenas em PDF.

Full text available only in PDF format.

 

 

REFERENCES

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Aceite: 11-dezembro-1994.

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