Congenital fiber type disproportion in identical twins

Curless, Richard G.; Nelson, Marilyn B.

doi:10.1002/ana.410020603

Cited by 28 publications

(6 citation statements)

References 13 publications

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“…Extraocular, bulbar, face and neck muscles were preserved in our patients, while involvement of facial muscles, ophthalmoplegia and bulbar or respiratory muscles have been previously reported in up to 35% of mild or moderate CFTD cases and in up to 70% of severe cases (Clarke and North, 2003). CFTD is frequently regarded as a static muscle disorder, without significant deterioration after early childhood and even improvement with age (Brooke, 1973;Curless and Nelson, 1977;Cavanagh et al, 1979). In our patients, however, there was slow but steady progression of weakness.…”

Section: Discussionsupporting

confidence: 51%

“…The characteristic histochemical pattern on muscle biopsy consists of a predominance of type 1 fibres, which are at least 12% smaller than type 2 fibres, the latter being normal or hypertrophic (Brooke, 1973;Fardeau et al, 1975;Cavanagh et al, 1979). Sporadic and familial cases-consistent with both autosomal dominant and recessive inheritance-have been reported (Brooke, 1973;Kinoshita et al, 1975;Curless and Nelson, 1977;Eisler and Wilson, 1978;Jaffe et al, 1988). However, the diagnostic criteria, histopathological features and clinical course of the disease are still insufficiently defined.…”

Section: Introductionmentioning

confidence: 99%

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Autosomal dominant congenital fibre type disproportion: a clinicopathological and imaging study of a large family

Sobrido¹,

Fernández²,

Fontoira³

et al. 2005

Brain

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Congenital fibre type disproportion (CFTD) is considered a non-progressive or slowly progressive muscle disease with relative smallness of type 1 fibres on pathological examination. Although generally benign, CFTD has a variable natural course and severe progression has been observed in some patients. The pathogenesis of the disorder is unknown and many authors consider CFTD a syndrome with multiple aetiologies rather than a separate clinical entity. A positive family history has been reported in about 40% of cases, but the inheritance pattern is not clear. Both autosomal recessive and dominant modes of inheritance have been suggested. The present paper describes a large, multigenerational kindred that has an inherited myopathy fulfilling the histological criteria of CFTD, with autosomal dominant transmission and high penetrance. The clinical picture, remarkably similar in all affected family members, started in early infancy with mild limb muscle weakness. There was slow progression of symptoms into adulthood, with moderate to severe, mainly proximal, muscle weakness without loss of ambulation. Muscle biopsy from two affected individuals demonstrated predominance of small type 1 muscle fibres without other significant findings. Nerve conduction studies were normal and needle electromyography showed a myopathic pattern. MRI examination performed on three patients from successive generations showed involvement of proximal limb and paraspinal muscles. The clinical and pathological homogeneity in the present family, together with the lack of additional histological abnormalities after decades of disease progression in two affected individuals, supports this being a distinct myopathy with fibre type disproportion. Whether the disease in this family can be regarded as a form of the congenital myopathy known as CFTD or rather a unique condition sharing histological features with CFTD needs further investigation. This is, to our knowledge, the largest kindred with muscle fibre type disproportion reported to date. Our data confirm autosomal dominant inheritance, and this is the first MRI document of this disorder.

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Section: Discussionsupporting

confidence: 51%

Section: Introductionmentioning

confidence: 99%

Autosomal dominant congenital fibre type disproportion: a clinicopathological and imaging study of a large family

Sobrido¹,

Fernández²,

Fontoira³

et al. 2005

Brain

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“…In a recent review of 39 cases of CFTD, 22 were sporadic, 11 suggestive of autosomal dominant inheritance, and 6 suggestive of autosomal recessive inheritance (2). CFTD has also occurred in both monozygotic and dizygotic twins and in a family with an apparently balanced t(10;17) translocation, further supporting a genetic etiology in at least some instances (7)(8)(9). Most recently, mutations in the alpha actin gene ACTA1 have been identified in some individuals with CFTD (10).…”

mentioning

confidence: 99%

Relationship of primary mitochondrial respiratory chain dysfunction to fiber type abnormalities in skeletal muscle

et al. 2005

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Variation in the size and relative proportion of type 1 and type 2 muscle fibers can occur in a number of conditions, including structural myopathies, neuropathies, and various syndromes. In most cases, the pathogenesis of such fiber type changes is unknown and the etiology is heterogeneous. Skeletal muscle mitochondrial respiratory chain analysis was performed in 10 children aged 3 weeks to 5 years with abnormalities in muscle fiber type, size, and proportion. Five children were classified as having definite, four as probable, and one as possible mitochondrial disease. Type 1 fiber predominance was the most common histological finding (six of 10). On light microscopy, four cases had subtle concomitants of a mitochondriopathy, including mildly increased glycogen, lipid, and/or succinate dehydrogenase staining, and one case had more prominent evidence of underlying mitochondrial disease with marked subsarcolemmal staining. Most cases (nine of 10) had abnormal mitochondrial morphology on electron microscopy. All were found to have mitochondrial electron transport chain (ETC) abnormalities and met diagnostic criteria for mitochondrial disease. We did not ascertain any patients who had isolated fiber type abnormalities and normal respiratory chain analysis during the period of study. We conclude that mitochondrial ETC disorders may represent an etiology of at least a subset of muscle fiber type abnormalities. To establish an etiologic diagnosis and to determine the frequency of such changes in mitochondrial disease, we suggest analysis of ETC function in individuals with fiber type changes in skeletal muscle, even in the absence of light histological features suggestive of mitochondrial disorders.

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“…Some patients may have delayed onset with mild symptoms, mainly muscle pain (3). In some families, studies of affected siblings suggest an autosomal recessive pattern of inheritance (4). Other studies have shown parental involvement pointing to an autosomal dominant mode of inheritance (5,6).…”

mentioning

confidence: 99%

Severe insulin-resistant diabetes mellitus in patients with congenital muscle fiber type disproportion myopathy.

Vestergaard

Klein²,

Hansen³

et al. 1995

J. Clin. Invest.

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Congenital fiber type disproportion in identical twins

Cited by 28 publications

References 13 publications

Autosomal dominant congenital fibre type disproportion: a clinicopathological and imaging study of a large family

Autosomal dominant congenital fibre type disproportion: a clinicopathological and imaging study of a large family

Relationship of primary mitochondrial respiratory chain dysfunction to fiber type abnormalities in skeletal muscle

Severe insulin-resistant diabetes mellitus in patients with congenital muscle fiber type disproportion myopathy.

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