Duchenne Muscular Dystrophy in a Girl Identified by Dystrophin Deficiency

Maytal, Joseph; Al, Shanske; Je, Fox; Lipper, Steven; Eviatar, Lydia

doi:10.1055/s-2008-1071435

Cited by 3 publications

(3 citation statements)

References 10 publications

(11 reference statements)

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“…She was diagnosed as unclassified congenital muscular dystrophy on the basis of delayed motor milestones, high arched palate, involvement of the extensors of the foot, slow progression of the disease and dystrophic changes in muscle biopsy. Delayed motor development has already been reported in manifesting Xp21 muscular dystrophy carriers [36][37][38], but distal muscle involvement is an unusual feature, only found occasionally [39].…”

Section: Unclassified Congenital Myopathiesmentioning

confidence: 86%

Systematic use of dystrophin testing in muscle biopsies: results in 201 cases

Doriguzzi

Palmucci

Mongini

et al. 1997

Eur J Clin Investigation

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We studied dystrophin with both immunohistochemistry and immunoblotting in 201 muscle biopsies stored in liquid nitrogen during the period 1985-92. The systematic use of dystrophin testing combined with DNA analysis and with 3-10 years follow-up of the patients yielded a significant modification of the diagnoses made previously and identified dystrophinopathies with unusual expression and course. Seventeen out of 152 (11.18%) diagnoses in males and 8 out of 49 (16.32%) in females were modified by dystrophin testing. Most diagnostic errors (9 out of 27 diagnoses) were in the group Becker muscular dystrophy-limb girdle muscular dystrophy, confirming the clinical overlap of the two diseases. Unusual expressions of dystrophinopathy included muscular dystrophy with early elbow contractures (two patients), recurrent myoglobinuria (one patient), dilating cardiomyopathy (two patients), myoglobinuria and associated dilating cardiomyopathy (one patient), very late-onset benign myopathy (two patients and one manifesting carrier) and congenital myopathy (one manifesting carrier). In the group 'idiopathic hyper-CKaemia', we did not find any dystrophinopathy in 34 males, whereas five out of nine females were found to be carriers. Immunohistochemical analysis of dystrophin using the monoclonal antibody against the C-terminus detected 99% of protein defects and was found to be the most cost-effective way of revealing dystrophinopathies. The combined use of immunohistochemical analysis with the antibody against the C-terminus and immunoblotting with the antibody against the core of the protein appears to be a highly reliable diagnostic approach (100% detection rate).

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Section: Unclassified Congenital Myopathiesmentioning

confidence: 86%

Systematic use of dystrophin testing in muscle biopsies: results in 201 cases

Doriguzzi

Palmucci

Mongini

et al. 1997

Eur J Clin Investigation

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“…Several cases of isolated limb girdle muscular dystrophy in females have been identified as dystrophinopathies [6, 7, 15]and unusual presentations of the carrier state have been recognized. These include also cases resembling a congenital myopathy for its onset in infancy and the presence of hypotonia and delayed motor milestones [10, 11, 20]; the overall clinical picture and the course of the disease were however Duchenne-like. The only patient in her second decade of life [20]was confined to a wheelchair at 13.…”

Section: Discussionmentioning

confidence: 99%

“…Muscle biopsy is variable too [8], showing normal histological findings, minimal qualitative or quantitative alterations, myopathic changes, dystrophic features. After the use of dystrophin testing, unusual expressions of dystrophinopathy in females, such as Duchenne-like clinical picture [10, 11]and dilating cardiomyopathy [12], have been defined.…”

Section: Introductionmentioning

confidence: 99%

Unusual Clinical Expression of Dystrophinopathy in a Female, Mimicking a Congenital Myopathy

et al. 1999

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A 25-year-old woman with negative family history and delayed motor development presented hypotrophy of the right lower limb and calf hypertrophy since age 7 and she complained of muscle weakness since 23. Neurological examination showed a thin elongated face, high-arched palate, high-pitched voice, proximal wasting and weakness, impairment of distal muscles in the lower limbs. CK was 3,034 U/l, EMG showed a myopathic pattern. Muscle biopsy displayed dystrophic features with diffuse dystrophin deficiency; immunoblotting demonstrated quantitative reduction of the protein and normal molecular weight. Lyonization study showed skewed X-inactivation with the maternal X active. Seven years’ follow-up did not show progression of the disease.

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Variable histological expression of dystrophinopathy in two females

Doriguzzi

Palmucci²,

Mongini³

et al. 1999

Acta Neuropathologica

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We report two carriers of Xp21 muscular dystrophy with unusual clinical manifestations and striking variability of dystrophin deficiency within the same muscle biopsy. The first patient was a 60-year-old nun with recent onset of cramps and proximal weakness, mimicking an acquired myopathy. Muscle biopsy disclosed slight alterations in one sample and severe dystrophic changes in another; dystrophin was absent in 7% fibers in the former specimen and in 60% in the second. X inactivation was skewed with 90% cells inactivating the same X chromosome. The second patient was a 17-year-old girl with hyperCKemia, learning disability and a family history of X-linked muscular dystrophy. Muscle biopsy displayed slight fiber size variability and some internal nuclei; dystrophin was absent only in one muscle fiber. A second sample with the same morphological features demonstrated dystrophin deficiency with mosaic distribution. The pattern of X inactivation was normal. These cases emphasize the variability of histopathological changes and dystrophin deficiency in Xp21 muscular dystrophy carriers and the risk of sampling errors in muscle biopsy.

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Duchenne Muscular Dystrophy in a Girl Identified by Dystrophin Deficiency

Cited by 3 publications

References 10 publications

Systematic use of dystrophin testing in muscle biopsies: results in 201 cases

Systematic use of dystrophin testing in muscle biopsies: results in 201 cases

Unusual Clinical Expression of Dystrophinopathy in a Female, Mimicking a Congenital Myopathy

Variable histological expression of dystrophinopathy in two females

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