Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026850 (muscular dystrophy)
 5,870 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Neurofibromatosis is a neurocutaneous systemic disease that occurs in 1:2500 to 3300 live births. Prevalence figures have shown it to be as common as cystic fibrosis or Down's syndrome and more than twice as common as muscular dystrophy. In this study, our experience with 257 cases of neurofibromatosis seen since 1972 is reviewed. Intracranial, bony, and extracranial anomalies are described in the 223 patients (87%) who presented with, or ultimately developed, head and neck manifestations of the disease. The most common intracranial tumor was optic glioma, found in 35 patients (14%), 19 younger than 10 years of age. Acoustic neuromas were diagnosed in eight individuals (3%) and were bilateral in three. The most common skull anomaly was macrocephaly, noted 78 times (30%). Absence of the sphenoid wing occurred in 11 patients (4%) and 19 others (7%) had facial asymmetry due to other skull abnormalities. Extracranial manifestations included neurofibromas of the plexiform and nonplexiform type, Lisch nodules, and cafe-au-lait spots.
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PMID:Head and neck manifestations of neurofibromatosis. 308 47

The authors report a case of dilated cardiomyopathy caused by a muscular dystrophy, namely Becker's disease. The peculiarity of this case is the fact that the patient has lived enough time to have clinical manifestations of myocardiopathy because, in general, in this myopathy, the affected males have a short life and the early myocardial involvement is rare. A particular attention is paid to the need of consulting the cardiac patients not forgetting an eventual causal systemic disease and to the crucial importance of the genetic counselling in that kind of diseases.
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PMID:[Dilated cardiomyopathy in a patient with Becker's muscular dystrophy. A clinical case report]. 833 94

A 28-year-old male barber with no similar disease in his family admitted to our hospital because of difficulty of raising his arms in March 2003. When he was 18 years old, he broke his left clavicle. He started weight training from January 2003, then he gradually felt difficulty to raise his arms. Physical examination on admission showed weakness and atrophy of both serratus anterior muscles and there was no weakness in the other muscles. Serum CK level was 806 IU/l and CT scan of the upper thoracic levels revealed atrophy of the serratus anterior muscles on the both sides. Needle electromyography showed neurogenic change in the right serratus anterior muscle. Thus the diagnosis of bilateral long thoracic nerve palsy was made. Bilateral scapular winging (scapula alata) is commonly caused by systemic disease, especially muscular dystrophy or spinal muscular atrophy. Bilateral long thoracic nerve palsy by weight training should be known as one of the cause for the "scapula alata".
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PMID:[The bilateral long thoracic nerve palsy presenting with "scapula alata", as a result of weight training. A case report]. 1591

Myopathies are rare diseases. They may be genetic (muscular dystrophies, metabolic or congenital myopathies) or acquired (inflammatory, drug-related or toxic myopathies and those due to systemic disease). Muscular abnormalities secondary to affections of the peripheral nervous system or anterior horn are not strictly speaking myopathies. Morphological examination of muscle tissue is the key stage of the diagnostic workup, and crucial in directing patient care. Muscle biopsy analysis takes into account clinical and paraclinical data and requires close collaboration between the clinician and pathologist. Three illustrative examples are presented: a congenital muscular dystrophy, a glycogenosis and a muscular dystrophy mimicking polymyositis.
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PMID:[The role of pathology in neuromuscular diseases]. 1772 93