Hereditary quadriceps myopathy

Espir, Michael; Matthews, W. B.

doi:10.1136/jnnp.36.6.1041

Cited by 13 publications

(8 citation statements)

References 7 publications

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“…Quadriceps myopathy is a syndrome which shows muscular atrophy and weakness localized in the thighs (1)(2)(3)(4)(5)(6)(7)(8)(9)(10)(11)(12)(13)(14)(15). However, previous reports revealed weakness of other muscles in the pelvic girdles or upper extremities or EMG abnormalities without clinical symptoms (5,7,10,12) as seen in the present case. Although there were some EMG findings in the deltoid and triceps brachii muscles, the clinical signs and radiological findings were localized in the quadriceps femoris muscles in spite of the long duration of illness.…”

Section: Discussioncontrasting

confidence: 54%

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Quadriceps Myositis.

Konagaya

Mano

1992

Intern. Med.

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A young woman with slowly progressive muscular weakness and atrophy localized in both thighs is reported. Laboratory, electromyographic and histological findings suggested that the patient suffered from chronic myositis with a background of autoimmune disorder. Quadriceps myositis is a rare condition. The previously reported cases of this disease in the literature are reviewed. (Internal Medicine 31: 926-929, 1992)

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Section: Discussioncontrasting

confidence: 54%

“…Quadriceps myopathy is a syndrome of chronic and slowly progressive atrophy and weakness of the muscle in the thigh; most cases are considered to be a myogenic disorder and some cases are thought to be neurogenic (1)(2)(3)(4)(5)(6)(7)(8)(9)(10)(11)(12)(13)(14)(15). Of these, myositis localized in the thigh is a rare condition.…”

Section: Introductionmentioning

confidence: 99%

Quadriceps Myositis.

Konagaya

Mano

1992

Intern. Med.

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“…There is considerable heterogeneity in QM because etiologies can range from a form of limb-girdle muscular dystrophy (Swash and Heathfield, 1983) to polymyositis (Mohr and Knowlson, 1977;Turner and Heathfield, 1961). Genetic variants of QM are suspected to arise from autosomal dominant (Charniot et al, 2006;Espir and Matthews, 1973), autosomal recessive (Jarry et al, 2007;Mahjneh et al, 2003), and X-linked recessive (Kumari et al, 2000;Wada et al, 1990) inheritance patterns, indicating that several gene products probably play a role in QM pathology. However, multiple reports of alterations in the dystrophin gene, the gene mutated in males afflicted with Duchenne muscular dystrophy (Hoffman et al, 1987), resulted in a QM diagnosis (Beggs et al, 1991;Kumari et al, 2000;Sunohara et al, 1990;Wada et al, 1990).…”

Section: Introductionmentioning

confidence: 99%

Quadriceps myopathy caused by skeletal muscle-specific ablation of βcyto-actin

Prins

Call

Lowe

et al. 2011

Journal of Cell Science

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Quadriceps myopathy (QM) is a rare form of muscle disease characterized by pathological changes predominately localized to the quadriceps. Although numerous inheritance patterns have been implicated in QM, several QM patients harbor deletions in dystrophin. Two defined deletions predicted loss of functional spectrin-like repeats 17 and 18. Spectrin-like repeat 17 participates in actin-filament binding, and thus we hypothesized that disruption of a dystrophin–cytoplasmic actin interaction might be one of the mechanisms underlying QM. To test this hypothesis, we generated mice deficient for βcyto-actin in skeletal muscles (Actb-msKO). Actb-msKO mice presented with a progressive increase in the proportion of centrally nucleated fibers in the quadriceps, an approximately 50% decrease in dystrophin protein expression without alteration in transcript levels, deficits in repeated maximal treadmill tests, and heightened sensitivity to eccentric contractions. Collectively, these results suggest that perturbing a dystrophin–βcyto-actin linkage decreases dystrophin stability, which results in a QM, and implicates βcyto-actin as a possible candidate gene in QM pathology.

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“…Second, with some rare exceptions (28,29), diseases reported to have early selective bilateral quadriceps weakness and atrophy include the following diseases: BMD, limbgirdle muscular dystrophy 1B (LGMD 1B) and 1C, PROMM, IBM, myositis, Ehlers-Danlos syndrome, LewisSumner syndrome, diabetic amyotrophy, and neurogenic quadriceps amyotrophy; however the present patients did not appear to have any of these diseases.…”

Section: Discussionmentioning

confidence: 53%

Autosomal dominant Late-onset Quadriceps Myopathy: Three Patients of a Taiwanese Kindred

2011

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Objective Primary quadriceps weakness/atrophy is a rare disorder with variable etiologies; therefore, this disorder has been regarded as a clinical syndrome rather than a distinct entity. However, three affected patients of a Taiwanese family demonstrate a uniform pattern of quadriceps weakness and atrophy, their clinical manifestations and pattern of inheritance may suggest a new disease entity. Patients and Methods Three patients in a Taiwanese kindred with selective quadriceps weakness and atrophy, which began after age 40 years, were examined. To disclose the confines of this disorder, muscle CT scans, electromyography, nerve conduction studies and muscle biopsies were performed; and to unravel and better understand the nature of this disorder, histopathological, ultrastructural, immunocytochemical and genetic studies were carried out. Results In two patients with long-standing disease, muscle imaging showed marked atrophy and fat replacement of the anterior thigh muscles and electromyography showed a mixture of myopathic and neuropathic changes. Muscle histopathology on the mildly affected tibialis anterior showed myopathic changes with myofibrillar degeneration and secondary neurogenic alterations. Immunocytochemical staining was not diagnostic but excluded the dystrophinopathies and other well-known muscular dystrophies. Conclusion All previously identified diseases resulting in quadriceps weakness and atrophy have been ruled out and the present disorder appears to be a new disease entity of autosomal dominant late onset quadriceps myopathy.

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Hereditary quadriceps myopathy

Cited by 13 publications

References 7 publications

Quadriceps Myositis.

Quadriceps Myositis.

Quadriceps myopathy caused by skeletal muscle-specific ablation of βcyto-actin

Autosomal dominant Late-onset Quadriceps Myopathy: Three Patients of a Taiwanese Kindred

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