PubMed Health⌕ Search

SEARCH · PubMed Health

Results for “MUSCULAR DISEASES”

Explore indexed PubMed citations for clinical trials, systematic reviews and public health research. Read source abstracts and follow each citation to its original PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 361 records · Page 20Linked to original sources
PubMed1991

[Myocardial involvement in 2 women, carriers of Duchenne de Boulogne muscular dystrophy].

Duchenne muscular dystrophy is the commonest genetic muscular disease. The prognosis, which depends on cardiac involvement, is poor. In boys, this takes the form of a hypokinetic cardiomyopathy particularly affecting the postero-lateral wall of the left ventricle which then dilates. The recent identification of the gene which transmits the disease on the X chromosome and of the coded protein, dystrophin, has improved our understanding of the disease. We report two cases of isolated cardiac involvement in two female carriers of the disease, classically thought to be unaffected. They presented with apparently idiopathic dilated cardiomyopathies. These cases show that Duchenne muscular dystrophy is an original example of a genetically determined diffuse muscular disease with cardiac involvement.

Adult↗
PubMed1997

An aviator with an unusual gait: a rare disease teaches some everyday lessons.

Muscular diseases including the dystrophies and myopathies are often incompatible with a variety of occupations including aviation and military duty. Many of these diseases present early in life, are readily diagnosable, and are therefore rare in the aviation community because of pre-screening and selection. Some forms, however, may not present until adulthood during an established aviation career. Furthermore, although initial presentations may be subtle and insidious, the potential occupational and aeromedical ramifications of these diseases can be profound. The following report describes the case of a subjectively asymptomatic career military aviation officer who presented with an unusual gait, and was subsequently determined to have one of the late-presenting muscle disease variants: Anterior compartment Distal Myopathy. The patient's presentation and progression, diagnostic evaluation, prognosis, aeromedical risk and disposition, and issues of occupational and aeromedical significance are discussed.

Adult↗
PubMed1990

[The nosological situation of hereditary motor and sensory neuropathies (HMSN, Charcot-Marie-Tooth disease, neural muscular atrophy)].

Hereditary motor and sensory neuropathies (HMSN) comprise a heterogeneous group of disorders. Since phenotypic manifestations are similar in most families, classification is based on differences in the mode of inheritance, onset and progression of the disease, nerve conduction velocity and nerve biopsy findings. Autosomal dominant, autosomal recessive, X-dominant and X-recessive forms, substantial intrafamilial differences, intermediate forms and the combination of neuropathies with spinocerebellar degeneration within one and the same sibship have been described. On the basis of selected own cases it is demonstrated that there is a broad spectrum of functional and structural abnormalities depending on the progression of the disease and on the site of nerve studied (proximal or distal part). Both the neuronal and hypertrophic variants begin with axonal degeneration of the dying back type followed by segmental demyelination and variable degrees of hypertrophic Schwann cell proliferation. Constantly, posterior columns of the spinal cord reveal fiber loss. Since the molecular basis of the different forms remains to be clarified it seems to be of greater interest to underline common features than to separate seemingly different nosological entities. It is suggested that the latter are partly the result of a selection of cases with a variable severity. Evidently, the syndrome of myatrophic ataxia comprises apart from "pure" HMSN with unsignificant degenerations of posterior columns and "pure" Friedreich's ataxia with mild peripheral nerve fiber loss intermediate forms.

Adult↗
PubMed1986

[AMP deaminase deficiency (myoadenylate deaminase). Disease or syndrome?].

Two recent publications have shown the advantage of understanding the deficit in AMP desaminase in rheumatology. On this subject, the authors report 4 cases of deficit in AMP desaminase. The first one includes a semiology made of pain, and stiffening, the second case is discovered in the course of a primary muscular disease. The third case is present during the first stage of a spinal cord compression. The fourth case is a muscular deficit accompanied with a histological picture of inflammation, considered initially as a chronic polymyositis, but explained secondarily as a pseudo-polymyositis form of facio-scapulo-humeral dystrophy. In this respect, the cases from the literature are divided into three groups: asymptomatic, infraclinical forms, forms occurring in the course of specific diseases (muscular diseases, spinal cord diseases, inflammations of the connective tissues, metabolic diseases), apparently isolated forms. In the latter, emerges a semiology made of pain, cramps, stiffening of the lower extremities occurring on exertion. However, the specificity of the symptoms remains to be discussed.

AMP Deaminase↗
PubMed2004

[Neuromuscular diseases (NME). I. Spinal muscular atrophy, peripheral nerve diseases, congenital myasthenia gravis].

Among the group of clinically and genetically heterogeneous spinal muscular atrophies(SMA), the autosomal recessive proximal types I-III are the most frequent. They are caused by mutations of the telomeric copy of the survival motor neuron gene (SMN1) on chromosome sq while loss of the centromeric copy (SMN2) does not lead to SMA. The conservation of exon 7 in the SMN2 copy seems to be crucial for possible causal therapy options. The genetic defect is also known for spinal muscular atrophy with respiratory distress. Hereditary polyneuropathies are caused by mutations in several genes on different chromosomes. Genetic and phenotypic heterogeneity must be considered. Data on clinical symptoms, inheritance, and neurophysiology are obligatory for the most effective molecular analysis. Hereditary congenital myasthenic syndromes are clinically, genetically, and pathogenetically heterogeneous. The diagnostic significance of molecular genetic analyses is still increasing. Therapeutic options include oral medication and assisted ventilation as needed.

Humans↗
PubMed2003

Neuropathology considerations: clinical and SEMG/biofeedback applications.

SEMG investigation protocols are described within the neurological framework. A neuroanatomic pathway is utilized including muscular disease, neuromuscular junction conditions, peripheral neuropathy, radiculopahy, myleopathy, brainstem disorders, cerebellar disorders, subcortical and cortical disease. SEMG findings within the clinical presentation of those pathologies are aimed at improving the diagnostic process and serve to focus the SEMG neuromuscular reeducation (biofeedback) component of the overall treatment plan.

Animals↗
PubMed2001

Direct interaction of the spinal muscular atrophy disease protein SMN with the small nucleolar RNA-associated protein fibrillarin.

Disruption of the survival motor neuron (SMN) gene leads to selective loss of spinal motor neurons, resulting in the fatal human neurodegenerative disorder spinal muscular atrophy (SMA). SMN has been shown to function in spliceosomal small nuclear ribonucleoprotein (snRNP) biogenesis and pre-mRNA splicing. We have demonstrated that SMN also interacts with fibrillarin, a highly conserved nucleolar protein that is associated with all Box C/D small nucleolar RNAs and functions in processing and modification of rRNA. Fibrillarin and SMN co-immunoprecipitate from HeLa cell extracts indicating that the proteins exist as a complex in vivo. Furthermore, in vitro binding studies indicate that the interaction between SMN and fibrillarin is direct and salt-stable. We show that the glycine/arginine-rich domain of fibrillarin is necessary and sufficient for SMN binding and that the region of SMN encoded by exon 3, including the Tudor domain, mediates the binding of fibrillarin. Tudor domain missense mutations, including one found in an SMA patient, impair the interaction between SMN and fibrillarin (as well as the common snRNP protein SmB). Our results suggest a function for SMN in small nucleolar RNP biogenesis (akin to its known role as an snRNP assembly factor) and reveal a potential link between small nucleolar RNP biogenesis and SMA.

Amino Acid Sequence↗
PubMed1984

Detection of myopathies in children by 1H nuclear magnetic resonance (NMR) and comparison with histopathological patterns.

Report of a study of primary myopathies in children conducted within the framework of our program to evaluate the diagnostic potential of 1H NMR in muscular diseases. There are substantial differences in the in vitro 1H NMR response of skeletal muscles between normal children and children with congenital non progressive myopathies and Duchenne muscular dystrophy.

Child↗
PubMed1996

[Nemalinic myopathy with intracytoplasmic spheroid bodies: report of a case].

The authors report the case of a female patient, 18 years of age, with slowly progressing weakness in upper and lower limbs since childhood. There were no significant antecedents. The neurologic examination showed mild proximal and distal motor deficit with a slight muscular retraction at the level of shoulders, elbows, coxofemural joints, knees and ankles; muscular hypotrophy in the legs and feet; reflexes were present and sensitivity was normal. Creatinephosphokinase showed an increase of one and a half times the normal value. Electroneuromyography: decrease in the amplitude and duration of action potentials and excessive recruitment of motor units, compatible with a primary muscular disease. A muscle biopsy with frozen sections (HE, Gomori, PAS, ATPases, NADH, SDH, acid and alcaline phosphatases, cytochrome oxidase and Oil-red-o) revealed a primary muscular disease characterized by the presence of nemalinic and intracytoplasmic spheroid bodies. Nemalinic bodies have been described with different structural abnormalities of muscle fibers; however, such association is rare. This is the second case report of concomitant occurrence of nemalinic and spheroid bodies.

Adolescent↗
PubMedDate not supplied

Natural history of cardiac involvement in myotonic dystrophy (Steinert's disease): a 13-year follow-up study.

Myotonic dystrophy (MD) is associated with a wide spectrum of cardiac abnormalities, but only a few longitudinal studies have investigated the natural course of heart disease in MD. To assess whether neuromuscular involvement significantly predicts cardiac disorders in MD, 83 patients with various grades of disease severity were enrolled in a 13-year follow-up study (mean, 60.6 +/- 37.8 months) that included periodic physical and instrumental cardiac examinations (standard and Holter electrocardiography, echocardiography). During follow-up, muscular disease worsened clinically in 9 patients (11%) whose baseline severity grade changed accordingly; only 3 of them demonstrated parallel worsening of cardiac disturbance, however, compared with a large number of patients who showed additional cardiac abnormalities. These included further worsening of pre-existing pathologic features (19/83) and the appearance de novo of serious arrhythmias and/or conduction defects (23/83). Pacemaker implantation was necessary in 11 of 83 patients (13.2%) who had symptomatic bradyarrhythmias, bifascicular block, and P-R prolongation with a His-to-ventricle interval exceeding 55 ms, as documented by electrophysiologic study. Eight (9.6%) patients died: 2 from noncardiac and 1 from unknown causes, 1 from heart failure, and 4 from sudden death closely related to documented ventricular tachycardia. The incidence and seriousness of arrhythmic and conduction disturbances correlated with the severity of the muscular involvement. Nevertheless, cardiac and muscular disease did not show a linear progression. Cardiac involvement generally worsened more rapidly than did skeletal muscle disease.

Adolescent↗
PubMed2001

Assessment of a disease-specific muscular impairment rating scale in myotonic dystrophy.

OBJECTIVE: To document the intra/interrater reliability and the construct validity of the Muscular Impairment Rating Scale (MIRS) in assessing patients with myotonic dystrophy type 1 (DM1). The MIRS is a ordinal five-point rating scale, established in accordance with the clinically recognized distal to proximal progression of the muscular involvement in DM1, based partly on a manual muscle testing (MMT) of 11 muscle groups. METHODS: To assess the reliability of the MIRS, 55 patients with DM1 were examined by three different observers, one of them evaluating each patient twice. Intra- and interobserver reliability of the MIRS was measured using Cohen's weighted kappa. To assess the construct validity of the MIRS, correlations were made with the Functional Status Index (FSI) and eight timed functional tasks. RESULTS: The intraobserver reliability of the MIRS was excellent (weighted kappa = 0.84), and the interobserver reliability was interpreted as a substantial agreement (weighted kappa = 0.77 to 0.79). The correlation coefficients between MMT scores and MIRS grades were all highly significant (r(s) = -0.81 to -0.88, p < 0.001). The FSI showed a significant progressive increase of the total median dependence score in activities of daily living from 0 in MIRS grade 1 to 39 in MIRS grade 5 (p < 0.001). The time needed to perform the eight functional tasks was also found to significantly increase in relation with the progression of the MIRS grades. CONCLUSION: The MIRS is a quick, simple, and reliable measurement of muscular impairment in DM1. The FSI questionnaire and the timed motor activities supported its construct validity. The MIRS is useful to monitor major stages of DM1 progression, to study the natural history of the disease, and to identify homogeneous groups of patients for clinical trials.

Adolescent↗
PubMed1999

A novel mutation in the gene for the adult skeletal muscle sodium channel alpha-subunit (SCN4A) that causes paramyotonia congenita of von Eulenburg.

BACKGROUND: Paramyotonia congenita (PMC) of von Eulenburg is an autosomal dominant muscular disease characterized by exercise- and cold-induced myotonia and weakness. To date, 18 missense mutations in the adult skeletal muscle sodium channel alpha-subunit (SCN4A) gene have been identified to cause a spectrum of muscular diseases, including PMC of von Eulenburg, PMC without cold paralysis, potassium-aggravating myotonia, and hyperkalemic periodic paralysis. However, no obvious correlations can be made between the location or nature of amino acid substitutions in SCN4A and its clinical phenotypes. OBJECTIVE: To describe clinical and genetic features of a family with PMC of von Eulenburg. RESULTS: A Japanese family with cold-induced myotonia and weakness was diagnosed as having PMC of von Eulenburg. This phenotype was identified to be caused by a novel mutation that substituted a glutamic acid residue for a highly conserved glycine residue in the fourth transmembrane segment (S4) of domain IV. This predicted a decrease in positive charge specific for the S4. CONCLUSION: In addition to the G1456E identified in this study, 4 mutations that cause a decrease in positive charge in the S4/D4 are associated with the phenotype of PMC of von Eulenburg. This provides an important genotype-phenotype correlation in sodium channelopathies.

Adult↗