Muscular dystrophies are a heterogeneous class of inherited disorders presenting with different clinical, genetic, and biochemical features. Muscular dystrophies include Duchennemuscular dystrophy (DMD) and Becker muscular dystrophy (BMD) myotonic dystrophy (DM), oculopharyngeal muscular dystrophy (OPMD), facioscapulohumeral muscular dystrophy (FSHD), limb-girdle muscular dystrophy (LGMD), dist...

congenital muscular dystrophy (cmd)  is an umbrella term collecting a heterogeneous groups of genetic disorders , mostly with autosomal recessive mode of inheritance , and are characterized by muscle weakness since birth or in early infancy , with a dystrophic pattern on muscle biopsy . these children are usually hypotonic and may have joint contractures . the serum creatine kinase level can be...

This chapter places emphasis on patients with more weakness in proximal than distal parts. The most common type of proximal muscular dystrophy is Duchenne muscular dystrophy (DMD). Due to rapid deterioration, DMD can be seen as a severe form of muscular dystrophy. Other types of proximal muscular dystrophies have a slower rate of disease progression compared to DMD, such as Beck muscular dystro...

A workshop was convened on the topic of Cardiomyopathy associated with Muscular Dystrophy in Tucson, Arizona, 28–30 September 2003, sponsored by the Muscular Dystrophy Association. Workshop participants from North America, Europe and Australia set as goals to understand the pathologic basis of cardiomyopathy associated with muscular dystrophy and to review treatment strategies for cardiomyopath...

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how to cite this article: bozorgmehr b, kariminejad a, nafissi sh, jebelli b, andoni u, gartioux c, ledeuil c, allamand y, richard p, kariminejad mh. ullrich congenital muscular dystrophy (ucmd):clinical and genetic correlations. iran j child neurol. 2013 summer; 7(3): 15-22.   obj ective: ullrich congenital muscular dystrophy (ucmd) corresponds to the severe end of the clinical spectrum of neu...

BACKGROUND Identifying translatable, non-invasive biomarkers of muscular dystrophy that better reflect the disease pathology than those currently available would aid the development of new therapies, the monitoring of disease progression and the response to therapy. OBJECTIVE The goal of this study was to evaluate a panel of serum protein biomarkers with the potential to specifically detect s...

We describe a man with Becker muscular dystrophy whose weakness was minimal in contrast to that of his more severely affected nephews. This man had a Klinefelter karyotype (47,XXY) and his mild symptoms may be attributed to him being heterozygous for the muscular dystrophy gene. This is the first report of a person with both Klinefelter's syndrome and Becker muscular dystrophy. This combination...

We evaluated the frequency of cerebral infarction in 131 patients with Duchenne's muscular dystrophy, myotonic dystrophy, Becker's muscular dystrophy, or Friedreich's ataxia. Electrocardiographic abnormalities were found in 83% of patients with Duchenne's muscular dystrophy, 56% with myotonic dystrophy, 50% with Becker's muscular dystrophy, and 25% with Friedreich's ataxia. Atrial flutter occur...

Duchenne muscular dystrophy While the eponym, Duchenne muscular dystrophy (DMD), is applied to the most common and most severe muscular dystrophy of childhood, Duchenne was not the first to describe the condition. 10 years before Duchenne reported his first case of Duchenne dystrophy, the London physician Meryon had described the condition. However, Duchenne provided a comprehensive account of ...