Doença de Kennedy: Relato de dois casos

Seefeld, M.; Cunha, F. Marcos; Ferraz, Leila Elizabeth; Scola, Rosana Herminia; Werneck, Lineu Cesar

doi:10.1590/S0004-282X1995000300017

Resumos

Relatamos, pela primeira vez em nosso meio, dois pacientes com atrofia muscular bulbo espinhal de início tardio (doença de Kennedy), caracterizada por fraqueza, atrofia muscular, tremores e manifestações endocrinológicas, com sinais eletromiográficos de desnervação. Esta entidade diferencia-se das demais doenças do neurônio motor pela sua peculiar herança ligada ao sexo, anormalidades endocrinas (ginecomastia, atrofia testicular e oligoespermia), tendo prognóstico relativamente favorável. Discutimos a caracterização clínica dos doentes apresentados, o aspecto fisiopatológico e a evolução.

doença de Kennedy; doença do neurônio motor; neuronopatia hereditária

We report two cases of Kennedy's disease (muscle weakness, amyotrophy, intentional tremor, endocrine abnormalities, and denervation signs at electromyography). This entity must be differentiated from other motor neuron disorders by the genetic pattern (X-liked recessive), gynecomastia, testicular atrophy, oligospermia and good prognosis. A discussion about the clinical pattern and evolution is made.

Kennedy disease; motor neuron diseases; hereditary neuronopathy

Doença de Kennedy. Relato de dois casos

Kennedy disease: report of two cases

M. Seefeld^I; F. Marcos Cunha^II; Leila Elizabeth Ferraz^III; Rosana Herminia Scola^IV; Lineu Cesar Werneck^V

^IResidente

^IIEstagiário

^IIINeurologista-eletrorniografista

^IVProfessor Assistente

^VProfessor Titular de Neurologia

RESUMO

Relatamos, pela primeira vez em nosso meio, dois pacientes com atrofia muscular bulbo espinhal de início tardio (doença de Kennedy), caracterizada por fraqueza, atrofia muscular, tremores e manifestações endocrinológicas, com sinais eletromiográficos de desnervação. Esta entidade diferencia-se das demais doenças do neurônio motor pela sua peculiar herança ligada ao sexo, anormalidades endocrinas (ginecomastia, atrofia testicular e oligoespermia), tendo prognóstico relativamente favorável. Discutimos a caracterização clínica dos doentes apresentados, o aspecto fisiopatológico e a evolução.

Palavras-chave:doença de Kennedy, doença do neurônio motor, neuronopatia hereditária.

SUMMARY

We report two cases of Kennedy's disease (muscle weakness, amyotrophy, intentional tremor, endocrine abnormalities, and denervation signs at electromyography). This entity must be differentiated from other motor neuron disorders by the genetic pattern (X-liked recessive), gynecomastia, testicular atrophy, oligospermia and good prognosis. A discussion about the clinical pattern and evolution is made.

Key words: Kennedy disease, motor neuron diseases, hereditary neuronopathy.

Texto completo disponível apenas em PDF.

Full text available only in PDF format.

Aceite: 6-fevereiro-1995.

Trabalho realizado no Serviço de Doenças Neuromusculares da Especialidade de Neurologia do Departamento de Clínica Médica do Hospital de Clínicas da Universidade Federal do Paraná (UFPr), Curitiba.

Dr. Lineu Cesar Werneck - Serviço de Doenças Neuromusculares, Especialidade de Neurologia, Hospital de Clínicas UFPR - Rua General Carneiro 181 - 80069-155 Curitiba PR - Brasil.

1. Amato AA, Prior TW, Barohn RJ, Snyder P, Papp A, Mendell JR. Kennedy's disease: a clinicopathologic correlation with mutation in the androgen receptor gene. Neurology 1993;43:791-794.
2. Barkhaus PE, Kennedy WR, Stern LZ, Harrington RB. Hereditary proximal spinal and bulbar motor neuron disease of late onset. Arch Neurol 1982; 39:112-116.
3. Ertekin C, Sirin H. X-linked bulbospinal muscular atrophy (Kennedy's syndrome): a report of three cases. Acta Neurol Scand 1993; 87:56-61.
4. Fischbeck KH, Ionasescu V, Ritter AW, Ionasescu R, Davies K, Bosch P, Burns T, Hausmanowa-Petrusewicz I, Borkowska J, Ringel S, Stern LZ. Localization of gene for X-linked spinal muscular atrophy. Neurology 1986; 36:1595-1598.
5. Harding A E, Thomas PK, Baraitser M, Bradbury PG, Morgan-Hughes JA, Ponsford JR. X-linked recessive bulbospinal neuropathy: a report of ten cases. J Neurol Neurosurg Psychiatry 1982; 45: 1012-1019.
6. Igarashi S, Tanno Y, Onodera O, Yamazaki M, Sato S, Ishikawa A, Miyatani N, Nagashima M, Sabashi K, Ibi T, Miyatake T, Tsuji S. Strong correlation between the number of CAG repeats in androgen receptor genes and the clinical onset of features of spinal and bulbar muscular atrophy. Neurology 1992 ; 42:2300-2302.
7. Kaneko K, Igarashi S, Miyatake T, Tsuji S. Essential tremor and CAG repeats in the androgen receptor gene. Neurology 1993; 43: 1618-1619.
8. Kennedy WR, Alter M, Sung JH. Progressive proximal spinal and bulbar muscular atrophy of late onset: a sex-linked trait. Neurology 1968; 18:671-680.
9. La Spada AR, Wilson EM, Lubahn DB, Harding AE, Fischbeck KH. Androgen receptor gene mutation in X-linked spinal and bulbar muscular atrophy. Nature 1991; 352:77-79.
10. Paulson GW, Liss L, Sweenwy P. Late onset spinal muscle atrophy: a sex linked variant of Kugelberg-Welander. Acta Neurol Scand 1980; 61:49-55.

Datas de Publicação

Publicação nesta coleção
09 Dez 2010
Data do Fascículo
Set 1995

This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.

[1] 1. Amato AA, Prior TW, Barohn RJ, Snyder P, Papp A, Mendell JR. Kennedy's disease: a clinicopathologic correlation with mutation in the androgen receptor gene. Neurology 1993;43:791-794.

[2] 2. Barkhaus PE, Kennedy WR, Stern LZ, Harrington RB. Hereditary proximal spinal and bulbar motor neuron disease of late onset. Arch Neurol 1982; 39:112-116.

[3] 3. Ertekin C, Sirin H. X-linked bulbospinal muscular atrophy (Kennedy's syndrome): a report of three cases. Acta Neurol Scand 1993; 87:56-61.

[4] 4. Fischbeck KH, Ionasescu V, Ritter AW, Ionasescu R, Davies K, Bosch P, Burns T, Hausmanowa-Petrusewicz I, Borkowska J, Ringel S, Stern LZ. Localization of gene for X-linked spinal muscular atrophy. Neurology 1986; 36:1595-1598.

[5] 5. Harding A E, Thomas PK, Baraitser M, Bradbury PG, Morgan-Hughes JA, Ponsford JR. X-linked recessive bulbospinal neuropathy: a report of ten cases. J Neurol Neurosurg Psychiatry 1982; 45: 1012-1019.

[6] 6. Igarashi S, Tanno Y, Onodera O, Yamazaki M, Sato S, Ishikawa A, Miyatani N, Nagashima M, Sabashi K, Ibi T, Miyatake T, Tsuji S. Strong correlation between the number of CAG repeats in androgen receptor genes and the clinical onset of features of spinal and bulbar muscular atrophy. Neurology 1992 ; 42:2300-2302.

[7] 7. Kaneko K, Igarashi S, Miyatake T, Tsuji S. Essential tremor and CAG repeats in the androgen receptor gene. Neurology 1993; 43: 1618-1619.

[8] 8. Kennedy WR, Alter M, Sung JH. Progressive proximal spinal and bulbar muscular atrophy of late onset: a sex-linked trait. Neurology 1968; 18:671-680.

[9] 9. La Spada AR, Wilson EM, Lubahn DB, Harding AE, Fischbeck KH. Androgen receptor gene mutation in X-linked spinal and bulbar muscular atrophy. Nature 1991; 352:77-79.

[10] 10. Paulson GW, Liss L, Sweenwy P. Late onset spinal muscle atrophy: a sex linked variant of Kugelberg-Welander. Acta Neurol Scand 1980; 61:49-55.