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

Werneck, Lineu C.; Marrone, Carlo D.; Scola, Rosana H.

doi:10.1590/S0004-282X1993000400009

Resumos

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.

miopatias distais; distrofias musculares distais; miopatia com vacúolos marginados

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.

distal myopathies; distal muscular dystrophy; distal myopathy with rimmed vacuoles

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

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

Lineu C. Werneck^I; Carlo D. Marrone^II; Rosana H. Scola^III

^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.

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)

1. Bancker BQ, Ehgel AG. Basic reaction of muscle. In Engel AG, Banker BQ: Myology, basic and clinical. New York: McGraw-Hill, 1988.
2. Edstrom L. Histochemical and histopathological changes; in skeletal muscle of late-onset hereditary distal myopathy (Welander). J Neurol Sci 1975, 26:147-157.
3. Edstrom L, Thronell L-C, Eriksson A. A new type of hereditary distal myopathy with characteristic sarcoplasmic bodies and intermediate (skeletin) filaments. J Neurol Sci 1990, 47:171-190.
4. Edstrom L, Wroblewski R. Sarcoplasmic bodies in distal myopathy compared with nemalina rods. J Neurol Sci 1981, 49:341-352.
5. Fukuhara N, Kumamoto T, Tsubaki T, Mayuzumi T, Nita H. Oculopharyngeal muscular dystrophy and distal myopathy. Acta Neurol Scand 1982, 65:458-461.
6. Harding AF, Thomas PK. Distal and scapuloperoneal distribution of muscle involvement occurring within a family with type I hereditary motor and sensory neuropathy. J Neurol 1980, 224:17-23.
7. Isaacs J, Badenhorst M, Whistler T. Autosomal recessive distal myopathy. J Clin Pathol 1988, 41:188-194.
8. Kuhn E, Schroder M. A new type of distal myopathy in two brothers. J Neurol 1981, 226:181-185.
9. Kumamoto T, Fukuhara N, Nagashima M, Kanda T, Wakabayashi M. Distal myopathy: histochemical and ultrastructural studies. Arch Neurol 1982, 39:367-471.
10. Lindberg C, Borg K, Edstrom L, Hedstrom A, Oldfors A. Inclusion body myositis and Welander distal myopathy: a clinical, neurophysiological and morphological comparison. J Neurol Sci 1991, 103:76-81.
11. Lotz BP, Engel AG, Nishing H, Stevens JC, Litchy WJ. Inclusion body myositis. Brain 1989, 112:727-747.
12. Marksberry WR, Griggs RC. Distal myopathies. In Engel AG, Banker BQ: Myology. New York: McGraw-Hill, 1986, p 1313-1325.
13. Marksberry WR, Griggs RC, Leach RP, Lapham LW. Late onset hereditary distal myopathy. Neurology 1974, 23:127-134.
14. Matsubara S, Tanabe H. Hereditary distal myopathy with filamentous inclusions. Acta Neurol Scand 1982, 65:363-368.
15. Mastaglia FL, Walton JN. Inflammatory myopathy. In Mastaglia FL, Walton JN: Skeletal muscle pathology. Edinburg: Churchill Livingstone, 1982.
16. Miyoshi K, Kawai H, Iwasa M, Kusaka K, Nishino H. Autosomal recessive distal muscular dystrophy as new type of progressive muscular dystrophy. Brain 1986, 109:31-54.
17. Mizusawa H, Kurisaki H, Takatsu M, Inoue K, Mannen T, Toyokura Y, Nakanishi T. Rimmed vacuolar distal myopathy. J Neurol 1987, 234:137-145.
18. Nonaka I, Sunohara N, Ishiura S, Satoyoshi E. Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation. J Neurol Sci 1981, 51:141-155.
19. Nonaka I, Sunohara N, Satoyoshi E, Terasawa K, Yonemoto K. Autosomal recessive distal muscular dystrophy: a comparative study with distal myopathy with rimmed vacuole formation. Ann Neurol 1985, 17:51-59.
20. Orrico D, Tomelleri G, Grandis D, Fincati E, Fiaschi A. Sporadic adult onset distal myopathy. J Neurol Neurosurg Psychiatry 1986, 50:107-108.
21. Schmalbruch H. The muscular dystrophies. In Mastaglia FL, Walton JN: Skeletal muscle pathology. Edinburgh: Churchill Livingstone, 1982.
22. Scopetta C, Vaccario ML, Casali C, Trapani G, Mennuni G. Distal muscular dystrophy with autosomal recessive inheritance. Muscle & Nerve 1984, 7:478-481.
23. Sumner D, Crawfurd MD'A, Harriman DGF. Distal muscular dystrophy in an English family. Brain 1971, 94:51-60.
24. Sundaram MB, Ashenhurst EM. Polymyositis presenting with distal and asymmetrical weakness. Can J Neurol Sci 1981, 8:147-149.
25. Sunohara N, Nonaka I, Kamei N, Satoyoshi E. Distal myopathy with rimmed vacuole formation. Brain 1989, 112:65-83.
26. Tomé FMS, Askanas VK, Engel WK, Alvarez RB, Lee CS. Nuclear inclusions in innervated cultured muscle fibers from patients with oculopharyngeal muscular dystrophy. Neurology 1989, 39:926-932.
27. Vaccario ML, Scoppetta C, Bracaglia R, Uncini A. Sporadic distal myopathy. J Neurol 1981, 224:291-295.
28. Walton JN. Clinical examination, differential diagnosis and classification. In Walton JN: Disorders of voluntary muscle. Ed 5. Edinburgh : Churchill Livingstone, 1988, p 487-518.
29. Welander L. Myopathia distalis tarda hereditaria, Acta Med Scand 1951, 141 (Suppl):l-24
30. Werneck LC. O valor da biópsia muscular em neurologia: análise de 290 exames a fresco e pela histoquímica. Rev Bras Clin Terap 1981, 10(Ed Esp)2-24.
31. Werneck LC, Lima JGC, Koehler H. Correlation between specific histological and electromyographic findings in neuromuscular disorders. Arq Neuropsiquiatr 1988, 46:264-271.

Datas de Publicação

Publicação nesta coleção
19 Jan 2011
Data do Fascículo
Nov 1993

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

[1] 1. Bancker BQ, Ehgel AG. Basic reaction of muscle. In Engel AG, Banker BQ: Myology, basic and clinical. New York: McGraw-Hill, 1988.

[2] 2. Edstrom L. Histochemical and histopathological changes; in skeletal muscle of late-onset hereditary distal myopathy (Welander). J Neurol Sci 1975, 26:147-157.

[3] 3. Edstrom L, Thronell L-C, Eriksson A. A new type of hereditary distal myopathy with characteristic sarcoplasmic bodies and intermediate (skeletin) filaments. J Neurol Sci 1990, 47:171-190.

[4] 4. Edstrom L, Wroblewski R. Sarcoplasmic bodies in distal myopathy compared with nemalina rods. J Neurol Sci 1981, 49:341-352.

[5] 5. Fukuhara N, Kumamoto T, Tsubaki T, Mayuzumi T, Nita H. Oculopharyngeal muscular dystrophy and distal myopathy. Acta Neurol Scand 1982, 65:458-461.

[6] 6. Harding AF, Thomas PK. Distal and scapuloperoneal distribution of muscle involvement occurring within a family with type I hereditary motor and sensory neuropathy. J Neurol 1980, 224:17-23.

[7] 7. Isaacs J, Badenhorst M, Whistler T. Autosomal recessive distal myopathy. J Clin Pathol 1988, 41:188-194.

[8] 8. Kuhn E, Schroder M. A new type of distal myopathy in two brothers. J Neurol 1981, 226:181-185.

[9] 9. Kumamoto T, Fukuhara N, Nagashima M, Kanda T, Wakabayashi M. Distal myopathy: histochemical and ultrastructural studies. Arch Neurol 1982, 39:367-471.

[10] 10. Lindberg C, Borg K, Edstrom L, Hedstrom A, Oldfors A. Inclusion body myositis and Welander distal myopathy: a clinical, neurophysiological and morphological comparison. J Neurol Sci 1991, 103:76-81.

[11] 11. Lotz BP, Engel AG, Nishing H, Stevens JC, Litchy WJ. Inclusion body myositis. Brain 1989, 112:727-747.

[12] 12. Marksberry WR, Griggs RC. Distal myopathies. In Engel AG, Banker BQ: Myology. New York: McGraw-Hill, 1986, p 1313-1325.

[13] 13. Marksberry WR, Griggs RC, Leach RP, Lapham LW. Late onset hereditary distal myopathy. Neurology 1974, 23:127-134.

[14] 14. Matsubara S, Tanabe H. Hereditary distal myopathy with filamentous inclusions. Acta Neurol Scand 1982, 65:363-368.

[15] 15. Mastaglia FL, Walton JN. Inflammatory myopathy. In Mastaglia FL, Walton JN: Skeletal muscle pathology. Edinburg: Churchill Livingstone, 1982.

[16] 16. Miyoshi K, Kawai H, Iwasa M, Kusaka K, Nishino H. Autosomal recessive distal muscular dystrophy as new type of progressive muscular dystrophy. Brain 1986, 109:31-54.

[17] 17. Mizusawa H, Kurisaki H, Takatsu M, Inoue K, Mannen T, Toyokura Y, Nakanishi T. Rimmed vacuolar distal myopathy. J Neurol 1987, 234:137-145.

[18] 18. Nonaka I, Sunohara N, Ishiura S, Satoyoshi E. Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation. J Neurol Sci 1981, 51:141-155.

[19] 19. Nonaka I, Sunohara N, Satoyoshi E, Terasawa K, Yonemoto K. Autosomal recessive distal muscular dystrophy: a comparative study with distal myopathy with rimmed vacuole formation. Ann Neurol 1985, 17:51-59.

[20] 20. Orrico D, Tomelleri G, Grandis D, Fincati E, Fiaschi A. Sporadic adult onset distal myopathy. J Neurol Neurosurg Psychiatry 1986, 50:107-108.

[21] 21. Schmalbruch H. The muscular dystrophies. In Mastaglia FL, Walton JN: Skeletal muscle pathology. Edinburgh: Churchill Livingstone, 1982.

[22] 22. Scopetta C, Vaccario ML, Casali C, Trapani G, Mennuni G. Distal muscular dystrophy with autosomal recessive inheritance. Muscle & Nerve 1984, 7:478-481.

[23] 23. Sumner D, Crawfurd MD'A, Harriman DGF. Distal muscular dystrophy in an English family. Brain 1971, 94:51-60.

[24] 24. Sundaram MB, Ashenhurst EM. Polymyositis presenting with distal and asymmetrical weakness. Can J Neurol Sci 1981, 8:147-149.

[25] 25. Sunohara N, Nonaka I, Kamei N, Satoyoshi E. Distal myopathy with rimmed vacuole formation. Brain 1989, 112:65-83.

[26] 26. Tomé FMS, Askanas VK, Engel WK, Alvarez RB, Lee CS. Nuclear inclusions in innervated cultured muscle fibers from patients with oculopharyngeal muscular dystrophy. Neurology 1989, 39:926-932.

[27] 27. Vaccario ML, Scoppetta C, Bracaglia R, Uncini A. Sporadic distal myopathy. J Neurol 1981, 224:291-295.

[28] 28. Walton JN. Clinical examination, differential diagnosis and classification. In Walton JN: Disorders of voluntary muscle. Ed 5. Edinburgh : Churchill Livingstone, 1988, p 487-518.

[29] 29. Welander L. Myopathia distalis tarda hereditaria, Acta Med Scand 1951, 141 (Suppl):l-24

[30] 30. Werneck LC. O valor da biópsia muscular em neurologia: análise de 290 exames a fresco e pela histoquímica. Rev Bras Clin Terap 1981, 10(Ed Esp)2-24.

[31] 31. Werneck LC, Lima JGC, Koehler H. Correlation between specific histological and electromyographic findings in neuromuscular disorders. Arq Neuropsiquiatr 1988, 46:264-271.