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)

Two long-living brothers of dystrophin-related muscular dystrophy with an in-frame deletion of exon 3 of the dystrophin gene were described. Weakness of the lower extremities and pseudohypertrophy of calf muscles began at the age of 2 years in the elder brother and 4 years in the younger brother, respectively. Clinical symptoms progressed rapidly and both of them lost ambulation and became wheelchair bound at the age of 11-12 years. However, the progression of the disease process slowed in late teens, and now at the age of 36 and 33 years, respectively, they do not have respiratory or cardiac insufficiency, although they are disabled severely. Southern blotting with the entire dystrophin cDNAs, cDNA 1-2a, 2b-3, 4-5a, 5b-7, 8, and 9-14, revealed a single deletion of exon 3 in the 2 brothers. The mother was shown to be a heterozygote for this mutation. The unique clinical features of these brothers were presumed due to the following 2 factors: (1) a single deletion of exon 3 is an in-frame deletion of the dystrophin gene, and (2) exon 3 corresponds to a unique domain of the dystrophin molecule; the amino-terminal region which is highly homologous to the actin-binding-region of alpha-actinin. We consider that these 2 brothers are compatible with the so-called frame-shift hypothesis of Duchenne/Becker muscular dystrophy (DMD/BMD) phenotype, although they are diagnosed DMD by the classification method based on the patients' age of becoming permanently wheelchair bound.
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PMID:[Two long-living brothers of dystrophin-related muscular dystrophy with an in-frame deletion of exon 3 of the dystrophin gene--clinical features and diagnosis]. 189 67

Epidemiological or anamnestical data may either help or confuse the differential diagnosis of various diseases mainly characterized by asymptomatic hypertransaminasemia. Occasional finding of transaminase elevation may lead to suppose chronic or persistent hepatopathy, particularly when the patient seems to be asymptomatic and presents anamnestic data suggesting intoxication, acquired infection from blood derivatives, origin from geographic areas with high prevalence of viral hepatitis. However, the true existence of hepatic damage, concurrent to a myopathy, may be also related to the primitive diseases. There is evidence, in fact, that in the presence of muscular dystrophy, a disease caused by structural defects of muscular membranes, also hepatocytes show ultrastructural defects. The present work reports the cases of 5 children, hospitalized at the 1st Clinic of Infectious Diseases of the University of Genoa, affected by persistent hypertransaminasemia and showing anamnestical data suggesting hepatitis; histological findings of hepatitis were effectively shown in 3 patients after needle biopsy. All patients proved to be affected by muscular dystrophy. Hepatic damage results cannot be correlated to known causes of hepatopathy. During disease courses heralded by asthenia and hypertransaminasemia, differential diagnosis must take into account non-hepatic diseases, like muscular dystrophy. Although this disease mainly affects the muscle, also the liver seems to be involved, as suggested by histological changes found in some patients.
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PMID:[The role of liver in muscular dystrophy]. 831 58

Four cases of patients who described an unpleasant subjective experience of weakness and reduced muscle tone during treatment with clozapine are presented. An exacerbation of muscular dystrophy during clozapine treatment is also described. It is hypothesized that these adverse effects are related to the muscle relaxant properties of clozapine. The differential diagnosis of sedation, fatigue, asthenia, and reduced muscle tone is discussed.
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PMID:Subjective muscle weakness and hypotonia during clozapine treatment. 898 12

A genome scan with highly polymorphic markers has established linkage for tibial muscular dystrophy (TMD), a recently described late onset distal myopathy, to a novel myopathy locus on chromosome 2q31. The mode of inheritance in TMD is autosomal dominant and the typical symptom of ankle dorsiflexion weakness appears in the fourth to seventh decade. Weakness of lower leg muscles is slowly progressive eventually causing a moderate foot drop. Overall disability usually remains mild even in elderly patients and walking ability is preserved throughout the patient's lifetime. The main target of the disease, the tibial anterior muscle, shows progressive dystrophic changes with rimmed vacuoles at the early stages and complete replacement pathology at later stages of the disease. The linkage studies in four different TMD families revealed a common core haplotype with a set of markers on the chromosome 2q31 locus. This indicates one major ancient founder mutation for TMD in Finland. There is one superior candidate gene on the 2q31 locus, the gene encoding a giant protein titin, expressed in heart and skeletal muscle.
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PMID:Tibial muscular dystrophy--from clinical description to linkage on chromosome 2q31. 967 87

Weakness resulting from spinal muscular atrophy causes severe limitations in functional mobility. The early introduction of power mobility has potential to enhance development and mitigate disability. These outcomes are achieved by simulating normal skill acquisition and by promoting motor learning, visuospatial system development, self-exploration, cognition, and social development. There are few reports on early power mobility in spinal muscular atrophy, and it is typically not prescribed until school age. The authors evaluated 6 children under age 2 years with neuromuscular disease (5 spinal muscular atrophy, 1 congenital muscular dystrophy) for power mobility. Parents recorded the practice hours necessary to achieve independence using the Power Mobility Skills Checklist. Four children achieved independence in all items on the checklist by 7.9 months (range: 73-458 days). Introduction of early power mobility is feasible in spinal muscular atrophy patients under age 2 years and should be introduced in late infancy when children typically acquire locomotor skills.
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PMID:Independent mobility after early introduction of a power wheelchair in spinal muscular atrophy. 2277 61

Idiopathic inflammatory myopathies (IIM) are a group of diseases characterized by inflammation of the skeletal muscle. Weakness, mainly affecting the proximal muscles, is the cardinal muscular symptom in IIM. In patients with dermatomyositis, peculiar skin lesions are observed. The assessment of patients with IIM includes clinical and laboratory evaluation, and clinimetric measurements. Different tools have been proposed to measure muscular and extramuscular disease activity and damage in patients with IIM. A core set of measurements to use in clinical practice was recently proposed. Among laboratory features the increase of serum creatine kinase (CK) is considered a hallmark of muscle inflammation/damage. However, subjects with persistent CK elevation, without any evidence of a definite myopathy, are often seen in clinical practice and need a careful assessment. Indeed, CK blood levels can also increase in non-myopathic conditions, e.g. in case of intense physical exercise, assumption of some drugs (statins), muscular dystrophy, muscular trauma or in case of neuro-muscular disorders which all should be considered in the diagnostic work-up. The assessment of patients with IIM and hyperCKemia will be discussed in this paper.
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PMID:Assessment of patients with idiopathic inflammatory myopathies and isolated creatin-kinase elevation. 2600 Jan 60