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.
Introduction: Bethlem myopathy (BM) and Ullrich Congenital Muscular Dystrophy (DMCU) result from a mutation in collagen type VI. Objective: Describe the functionality of BM and UMCD subjects, at the Center for Human Genome Studies. Methods: It was researched functional skills in both cases, with muscle strength and shortening evaluation. Results: Muscular strength and functional losses in two cases, with a worse score in DMCU. Genetic and functional differences between Bethlem miopathyand Ullrich congenital muscular dystrophycase studies Genetic and functional differences between Bethlem miopathyand Ullrich congenital muscular dystrophy-case studies
Estudo de caracterização da força e da função muscular nas disferlinopatias para estabelecer biomarcadores de habilidades motoras com amostra de 40 pacientes, tendo sido avaliados força muscular (Medical Research Council - MRC), percentual de MRC, tempo de execução para deambular e escores nas Escalas de Vignos, Egen Klassifikation, Avaliação Funcional para Distrofia Muscular de Duchenne (FES-DMD) e North Star Ambulatory Assessment adaptada. Prevalência da disferlinopatia de 25,5% na amostra total de distrofias (1340), idade média de 36,5 anos, 52,5% do sexo masculino e 75% deambuladores. Músculos mais fracos: abdominal, glúteos, íliopsoas, isquiotibial, quadríceps femoral, tibial anterior e deltóide médio. Correlação forte entre MRC e tempo para deambular (r=0,77) e, muito forte da MRC distal de membros inferiores com aNSAA (r=0,90). Interação da MRC dos membros superiores e inferiores nos segmentos proximal e distal (p<0,001), sendo mais evidente em membros superiores que inferiores. Taxa variável de progressão da doença com 60% dos pacientes moderadamente ou gravemente afetados, com mais que 12 anos de doença. Estudo mostra que padrão de fraqueza muscular dos brasileiros com disferlinopatia é proximal e distal dos MMII, com comprometimento associado da região proximal dos MMSS, além de elucidar as habilidades motoras em relação ao processo de locomoção e disfunções cardiorrespiratórias.
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