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)

Electromyoneurography is the combined use of electromyography and electroneurography. Electromyography is useful in defining the cause and site of different myopathies, such as muscular dystrophy, myotonia and myasthenia, and lesions involving the motor neuron in the anterior horn of the spinal cord. Electroneurography helps to localize the site of peripheral nerve disorders, such as radiculopathy and axonopathy. Use of the two procedures together enhances diagnostic capacity and, in some situations, may obviate the need for myelography.
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PMID:Electromyoneurography. 71 21

The clinical diagnosis of a 34-year-old man was muscular dystrophy of the ascending limb-girdle type. There were no detectable signs of myotonia. Histological and biochemical investigations confirmed an acid maltase deficiency (AMD). Electromyography demonstrated a myopathic pattern, fibrillation potentials, normal nerve conduction velocity, and so-called pseudomyotonic or bizarre high frequency discharges. In the literature this EMG activity has been described as characteristic for AMD. But it seems to be a nonspecific EMG sign, which occurs in myogenic and neurogenic lesions such as myositis, metabolic and dystrophic myopathy, nuclear damage, radiculopathy, and neuropathy. It is therefore of little diagnostic value.
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PMID:[High frequency discharges as a non-specific EMG activity in adult acid maltase deficiency (author's transl)]. 693 Jan 99

The LMNA gene is associated to a huge broad of phenotypes, including congenital Emery-Dreifuss muscular dystrophy and late-onset LMNA-related muscular dystrophy. In these forms, muscle weakness, contractures, and cardiac impairment are common. In an autosomal dominant pedigree including 5 affected patients, NGS molecular analysis performed in 6 relatives identifies the heterozygous c.1129C>T p.Arg377Cys variant in the exon 6 of the LMNA gene in three of them. Clinical, laboratorial, imaging investigation of these affected patients showed a significant clinical variability: the father presented subclinical imaging muscular dystrophy masqueraded as radiculopathy. One of his sons presented cardiac arrhythmia, muscular weakness, elbow contractures, and intranuclear pseudoinclusions on muscle biopsy. A second son presented only decreased tendon reflexes. Two other brothers presenting myalgia and cramps were not carriers of the same mutation in the LMNA gene. Early diagnosis, considering these variable phenotype and genotype, is important for genetic counseling, as well as cardiac, and rehabilitation management.
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PMID:LMNA-Related Muscular Dystrophy with Clinical Intrafamilial Variability. 3141 Jun 51