Mitochondrial Myopathy Of Atypical Form And Late-Onset (clinical and rehabilitation aspects)

Case Report

Authors

  • Marco Orsini Graduando em Medicina, Doutorando em Neurologia na Universidade Federal Fluminense - UFF, Professor Titular da Escola Superior de Ensino Helena Antipoff - ESEHA, Niterói-RJ, Brasil.
  • Marcos RG de Freitas Neurologista, Doutor, Professor Titular e Chefe do Serviço de Neurologia da UFF, Niterói-RJ, Brasil.
  • Mariana P Mello Fisioterapeuta, Programa de Iniciação Científica da UFF, Niterói-RJ, Brasil.
  • Carlos HM Reis Neurologista, Doutorando em Neurologia na UFF, Niterói-RJ, Brasil
  • Júlia Fernandes Eigenheer Graduanda em Medicina na UNIGRANRIO, Rio de Janeiro-RJ, Brasil.
  • Osvaldo JM Nascimento Neurologista, Doutor, Professor Titular e Coordenador da PósGraduação em Neurologia da UFF, Niterói-RJ, Brasil
  • Fábio Porto Neurologista, Residente do Serviço de Neurologia - HUAP – UFF, Niterói-RJ, Brasil.
  • Antônio Marcos da Silva Catharino Neurologista, Doutorando em Neurologia na UNIRIO, Rio de JaneiroRJ, Brasil.
  • Leila Chimelli Médica Patologista, Professora Titular do Departamento de Patologia da UFRJ, Rio de Janeiro-RJ, Brasil.

DOI:

https://doi.org/10.34024/rnc.2010.v18.8495

Keywords:

Mitochondria, Myopathy, Prognosis, Evaluation

Abstract

Introduction. The mitochondrial diseases are genetic disorders with diverse clinical, biochemical and genetic aspects that usually involve some organ systems that stand out the mitochondrial abnormalities as ordinary histopathological appearance. It has a reserved prognosis and progressive course that affects the skeletal muscles and others organs and systems. Method. We report the case of a man that at the age of 70 years presented slowly weakness in distal third of the lower limbs and gait disturbances. The muscular biopsy showed the presence of some ragged red fibers. In the differential diagnosis were excluded: myasthenia gravis, BasedowGrave orbitopathy and oculofaringeal dystrophy. Conclusion. We call attention for the atypical distribution of the muscular weakness, age of beginning of the first symptoms and absence of alterations in others organs and systems. The physiotherapy becomes necessary for one better management of the muscular weakness and the ability of the patients in the execution of daily activities.

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References

Larsson NG, Clayton DA. Molecular genetic aspects of human mitochondrial disorders. Ann Rev Genet 1995;29: 151-78.

Lindeman E, Leffers P, Spaans F, Drukker J, Reulen J, Kerckhoffs M, et al. Strength training in patients with myotonic dystrophy and hereditary motor and sensory neuropathy: a randomized clinical trial. Arch Phys Med Rehabil 1995;76:612-20.

Boulet L, Karpati G, Shoubridge EA. Distribution and threshold expression of the tRNA (Lys) mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF). Am J Hum Genet 1992;51:1187-200.

Taivassalo T, DeStefano N, Chen J, Karpati G, Arnold DL. Shortterm aerobic training response in chronic myopathies. Muscle Nerve 1999;22:1239-43.

Medical Research Council (MRC). Aids to the investigation of peripheral nerve injuries. War Memorandum (revised 2nd edition). London: HMSO, 1943. 11-46

Venugopal B, Wong KT, Goto YI, Bhattacharjee MB. Mitochondrial disorder, diabetes mellitus, and findings in three muscles, including the heart. Ultrastruct Pathol 2006;30:135-41.

Horvath R, Hudson G, Ferrari G. Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. Brain 2006;1299:1637-9.

Kasahara T, Kubota M, Miyauchi T, Noda Y, Mouri A, Nabeshima T, et al. Mince with neuron-specific accumulation of mitochondrial DNA mutations show mood disorder-like phenotypes. Mol Psychiatry 2006;11: 577-93.

Kiyomoto BH, Gabbai AA, Oliveira ASB, Schmidt B, Lima JGC. Miopatia mitocondrial: relato de 12 casos com estudo histoquímico do músculo esquelético. Arq Neuropsiquiatr 1991;49:272-8.

Gabbai AA, Oliveira ASB. Doenças dos músculos. In: Prado FC, Ramos J, Valle JR. Atualização terapêutica manual prático de diagnóstico e tratamento. 17ª. ed. São Paulo: Artes Médicas; 1995, p.707-8.

Larsson NG, Oldfors A. Mitochondrial myopathies. Acta Physiol Scand 2001; 171:385-93.

Werneck LC, Abdalla H, Lohr A. Melas (Mitochondrial Encephalopathy Lactic Acidosis and Stroke-Like Episodes): Relato de um caso. Arq Neuropsiquiatr 1987; 45:288-94.

Kisanuki YY, Gruis KL, Smith TL, Brown DL. Late-onset mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes with bitemporal lesions. Arch Neurol 2006;63:1200-1.

Taivassalo T, DeStefano N, Argov Z, Matthews PM, Chen J, Genge A, et al. Effects of aerobic training in patients with mitochondrial myopathies. Neurology 1998;50:1055-60.

Taivassalo T, Fu K, Jonhs T, Arnold D, Kaspati G, Shoubridge EA. Gene shifting: a novel therapy for mitochondrial myopathy. Hum Mol Genet 1999;8:1047-52.

Ansved T. Muscle Training in muscular dystrophies. Acta Physiol Scand 2001;171:359-66.

Mette C, Orngreen BS, David B, Olsen MD. Ann Neurol. 2005;57:754-7.

Orsini M, De Freitas MRG, Nascimento OJM. Precauções na realização de exercícios terapêuticos para pacientes com doenças neuromusculares. Fisioterapia Ser 2007;2:272-5.

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Published

2010-06-30

How to Cite

Orsini, M., de Freitas, M. R., Mello, M. P., Reis, C. H., Eigenheer, J. F., Nascimento, O. J., … Chimelli, L. (2010). Mitochondrial Myopathy Of Atypical Form And Late-Onset (clinical and rehabilitation aspects): Case Report. Revista Neurociências, 18(2), 161–165. https://doi.org/10.34024/rnc.2010.v18.8495

Issue

Vol. 18 No. 2 (2010)

Section

Relato de Caso

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