Carrier detection of duchenne and becker muscular dystrophy using muscle dystrophin immunohistochemistry

Oliveira, Acary Souza Bullé; Gabbai, Alberto A.; Schmidt, Beny; Kiyomoto, Beatriz Hitomi; Souza-Lima, José Edmilson de; Minetti, Carlo; Bonilla, Eduardo

doi:10.1590/s0004-282x1992000400010

Cited by 3 publications

(2 citation statements)

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“…In recent research, asymmetry was observed mainly in the gluteus and thigh adductor muscles, as evaluated with diagnostic imaging 8 . Oliveira et al 18 evaluated 13 muscular biopsies of possible DMD carriers and, in six cases, dystrophin-positive and dystrophin-deficient mosaics were identified, which allowed the diagnostic confirmation of these carriers without discriminating functional dominance or muscle strength in the hemiforms 18 . The progression of DMD results in the development of compensatory movements to supply muscle weakness and the demand for ADLs 19 .…”

Section: Discussionmentioning

confidence: 99%

Functional performance and muscular strength in symptomatic female carriers of Duchenne muscular dystrophy

Silva

Anequini

Fávero

et al. 2020

Arq. Neuro-Psiquiatr.

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Duchenne muscular dystrophy (DMD) usually affects men. However, women are also affected in rare instances. Approximately 8% of female DMD carriers have muscle weakness and cardiomyopathy. The early identification of functional and motor impairments can support clinical decision making. Objective: To investigate the motor and functional impairments of 10 female patients with dystrophinopathy diagnosed with clinical, pathological, genetic and immunohistochemical studies. Methods: A descriptive study of a sample of symptomatic female carriers of DMD mutations. The studied variables were muscular strength and functional performance. Results: The prevalence was 10/118 (8.4%) symptomatic female carriers. Deletions were found in seven patients. The age of onset of symptoms in female carriers of DMD was quite variable. Pseudohypertrophy of calf muscles, muscular weakness, compensatory movements and longer timed performance on functional tasks were observed in most of the cases. Differently from males with DMD, seven female patients showed asymmetrical muscular weakness. The asymmetric presentation of muscle weakness was frequent and affected posture and functionality in some cases. The functional performance presents greater number of compensatory movements. Time of execution of activities was not a good biomarker of functionality for this population, because it does not change in the same proportion as the number of movement compensations. Conclusion: Clinical manifestation of asymmetrical muscle weakness and compensatory movements, or both can be found in female carriers of DMD mutations, which can adversely affect posture and functional performance of these patients.

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Section: Discussionmentioning

confidence: 99%

Functional performance and muscular strength in symptomatic female carriers of Duchenne muscular dystrophy

Silva

Anequini

Fávero

et al. 2020

Arq. Neuro-Psiquiatr.

View full text Add to dashboard Cite

show abstract

“…Elevated CPK levels occur in up to 70% of carrier women of dystrophin gene 10 . Dystrophin immunohystochemical staining should be included in the routine muscle biopsy study in patients with hyperCKemia to rule out Becker muscular dystrophy in men or dystrophin gene carrier status in women, regardless of family history 5,11 . Typical findings include partially dystrophin-deficient fibers and mosaic pattern (dystrophin positive and dystrophin negative fibers) of staining 12 .…”

Section: Discussionmentioning

confidence: 99%