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 523 records · Page 29Linked to original sources
PubMed2002

Calcium regulation and muscle disease.

Changes in intracellular Ca2+-concentration play an important role in the excitation-contraction-relaxation cycle of skeletal muscle. In this review we describe various inheritable muscle diseases to highlight the role of Ca2+-regulatory mechanisms. Upon excitation the ryanodine receptor releases Ca2+ in the cytosol. During and after contraction the sarcoplasmic reticulum (SR) Ca2+ATPase (SERCA) pumps Ca2+ back in the SR resulting in relaxation. An abnormal change in the intracellular Ca2+-concentration results in defective muscle contraction and/or relaxation, which is the cause of various muscle diseases. Malignant hyperthermia (MH) and central core disease (CCD) are both caused by mutations in the ryanodine receptor but show different clinical phenotypes. In MH an acute increase of Ca2+ results in excessive muscle contraction causing rigidity, while in CCD a chronic rise of cytosolic Ca2+ is seen, leading to mitochondrial damage, disorganization of myofibrils and muscle weakness. In Brody disease and also in mitochondrial myopathies, SERCA functions sub optimal causing a prolonged physiological Ca2+-elevation leading to slowing of relaxation. Defective actin-myosin interactions, as in nemaline myopathy and also in mitochondrial myopathies due to ATP-shortage, cause Ca2+-hyposensitivity and slowness of contraction. Information of Ca2+-kinetics in these inherited muscular diseases improves our understanding of the role of calcium in the physiology and pathophysiology of the skeletal muscle cell.

Animals↗
PubMed1963

RARE MYOPATHIES.

Explore the source record for details and available documents.

Amyloidosis↗
PubMedDate not supplied

[Neuromuscular gait disorders in pediatric age].

UNLABELLED: Alterations in gait are a frequent cause of consultation in neuropaediatric units. They have several different causes. One subgroup of special interest concerns those which have their origin in a neuromuscular disease. We studied the experience of the Child Neurology Unit at the Hospital 12 October from 1980 to 1993. MATERIAL AND METHODS: between 1980 and 1993 a total of 176 were studied because they showed alterations in their gait caused by a neuromuscular disease. Frequency and clinical features were analysed (sex, age at the beginning of the deterioration, duration of the latter etc.). RESULTS AND CONCLUSIONS: the alterations in gait were separated into two groups: Group I: backward or non-acquired gait. Group II: deterioration in gait. IIa: temporary. IIb: definitive. The most frequent cause in Group I was spinal muscular atrophy and in Group II, muscular dystrophy linked to sex. To sum up, muscular diseases are far more important than the neuropathic ones, except for Group IIa where acute demyelinating motor polyneuritis was to be found at the top of the list of frequent occurrences.

Age of Onset↗
PubMed2003

Expression of the intermediate filament protein synemin in myofibrillar myopathies and other muscle diseases.

Synemin is a member of the intermediate protein superfamily. Previous studies in avian and rodent skeletal and cardiac muscles have demonstrated that synemin localises at the Z-band, where it associates with desmin and alpha-actinin. In the present study, the distribution of synemin was examined using immunohistochemistry in muscle biopsy specimens from patients suffering from myofibrillar myopathy (MM, n=6), dermatomyositis (DM, n=3), inclusion body myositis (IBM, n=5), oculopharyngeal muscular dystrophy (OPD, n=3) and denervation atrophy (DA, n=3), to investigate the possible participation of this protein in the pathogenesis of various muscular diseases. Of patients affected by MM, two showed the presence of mutations in the desmin gene; none had mutations in the alphaB-crystallin gene; and no mutations were identified in synemin or syncoilin genes of three patients. Synemin immunohistochemistry disclosed a faint staining corresponding to the Z-bands in the cytoplasm of control muscle fibres; in contrast, focal aggregates of synemin were seen in patients with MM. Increased synemin immunoreactivity was identified diffusely or in the subsarcolemmal space of scattered fibres in patients with DM, and in vacuolated fibres of patients with IBM and OPD. Strong synemin immunoreactivity was observed in target formations and atrophic fibres of patients with denervating disorders, as well as in atrophic fibres, regardless of their origin, in all patients studied. Synemin co-localised with desmin, as seen on consecutive serial sections immunostained with anti-synemin or anti-desmin antibodies. These observations demonstrate abnormal accumulations containing both synemin and desmin in muscle fibres in patients with MM, IBM, DM, OPD and DA. Considering the important role of synemin as one of intermediate filaments of skeletal and cardiac muscle, its destruction and accumulation in the intracellular debris suggest that synemin may participate in the pathogenesis of these disorders.

Adult↗
PubMed1983

[Centronuclear myopathy. Apropos of a new case].

The observation of a thirteen-year-old boy who presented with motor developmental delay, muscular weakness and a waddling gait is reported. Moderately increased muscular enzyme activities and electromyographic findings suggested muscular disease. Histological and ultrastructural examinations of muscle biopsy specimens showed both hypotrophia of type 1 fibers and characteristic distribution of the nuclei within the sarcomere in a chainlike pattern in the center of the fiber surrounded by a space devoid of myofibrils. A few aspects of myophagia were found explaining why muscular enzyme activities were increased. The mother was clinically normal with slightly increased muscular enzyme activities and normal muscle biopsy specimens. The maternal grandmother had delayed gait abnormalities with normal muscular enzyme activities. Approximately one-hundred cases such as ours, isolated within a family, have been published. The course and the mode of inheritance suggest heterogeneity.

Adolescent↗
PubMed2001

Urinary collagen metabolite excretion in amyotrophic lateral sclerosis.

Collagen abnormalities of the spinal cord and the skin have been reported in patients with amyotrophic lateral sclerosis (ALS). The urinary concentrations of the hydroxylysine glycosides, i.e., glucosylgalactosyl hydroxylysine (glu-gal Hyl) and galactosyl hydroxylysine (gal Hyl), indicate the tissue origin of the collagen metabolites and the rate of the degradation of collagen. We measured the urinary levels of glu-gal Hyl and gal Hyl in 12 ALS patients, 10 diseased control subjects with other neurologic or muscular diseases (Control Group A), and 10 healthy control subjects (Control Group B). The urinary level of glu-gal Hyl in ALS patients was significantly lower than in the two control groups. In addition, a significant negative relationship between glu-gal Hyl urinary level and duration of illness was found in ALS patients. There was no marked difference in the urinary level of gal Hyl between ALS patients and the control groups. Our data suggest that the decreased urinary level of glu-gal Hyl may be useful in assessing the alteration in collagen metabolism in ALS and may have a relationship with the progression of ALS.

Aged↗
PubMed1991

Diseases of the middle-aged population: a study of 4,184 patients.

Within a seven-year period (1980-1986), 4,184 Nigerians aged 31-60 years were admitted into the medical wards of the University College Hospital, Ibadan, Nigeria. The clinical notes of these patients were analysed and the principal diagnoses for each case was coded in accordance with the International Classification of Diseases. Cardiovascular, infective, neoplastic and neuro-muscular diseases constituted the commonest disorders being 70pc of all diseases at admission in this age group. The relevance of these findings in the light of the pattern of diseases elsewhere is discussed.

Age Factors↗
PubMed1984

Episodic astigmatism heralding generalized myopathy: report of a case managed with a new type of soft contact lens.

A 29-year-old woman presented with marked variations in refraction. A few minutes of physical exertion or reading at a close distance induced up to 2D of myopia and 2D of myopic astigmatism, which regressed upon resting with closed eyes. Cycloplegic agents did not affect the refractive changes, which were shown to be due to variations in corneal curvatures. The eyes were otherwise clinically normal. A few months later the patient developed signs of a progressive, generalized myopathy of unknown origin. The muscular disease was resistant to treatment. The refractive changes were effectively controlled by means of a new type of soft contact lens, with a semi-rigid center.

Adult↗
PubMed1999

Genetic heterogeneity of congenital muscular dystrophy with rigid spine syndrome.

Rigid spine syndrome is a neuromuscular disorder characterised by early rigidity of the spine due to axial muscle contractures, generally associated with muscle weakness, limb-joint contractures, and often respiratory failure. This phenotype may be associated with several muscular diseases. In cases of merosin-positive congenital muscular dystrophies (CMD) with rigid spine syndrome, we have recently identified a new locus (RSMD1) on chromosome 1p35-36. In the present study, we report the clinical, morphological and genetic analysis of other patients affected by a CMD with rigid spine syndrome from nine consanguineous families. Homozygosity mapping showed that the disease was linked to RSMD1 in one of the nine families. The other families were excluded from RSMD1, and the patients presented highly variable phenotypes suggesting the involvement of more than one gene defect in rigid spine syndrome. Nevertheless, a subgroup of patients who never walked, and had very early rigidity of the spine and scoliosis, may be considered for further genetic analysis.

Adult↗
PubMed1993

Peripheral neuromuscular manifestations in systemic sclerosis (scleroderma).

Systemic sclerosis (scleroderma) is thought to be the least likely of the collagen vascular disorders to cause nervous system damage. We evaluated the peripheral neuromuscular manifestations in 32 patients with scleroderma. A clinically defined peripheral nervous system (PNS) lesion was manifest in 5 of 32 patients (16%), including 2 patients with trigeminal neuropathy and single cases of polyneuropathy, brachial plexopathy, and lumbosacral radiculopathy. Neurophysiological studies suggested subclinical PNS involvement in 6 additional patients (3 with distal axonal polyneuropathy, 1 with probable myopathy and superimposed polyneuropathy, 1 with trigeminal neuropathy, and 1 with focal ulnar neuropathy). Even though subjective muscular complaints were numerous (16 patients, 50%), a defined primary muscular disease could be demonstrated only in 5 patients (16%). Our results indicate that peripheral neuropathy in scleroderma is not as uncommon as previously estimated.

Action Potentials↗
PubMedDate not supplied

VACUOLAR MYOPATHY.

Explore the source record for details and available documents.

Humans↗
PubMed1996

Overshooting production of satellite cells in murine skeletal muscle affected by the mutation "muscular dystrophy with myositis" (mdm, Chr 2).

The hereditary degenerative muscle disease "muscular dystrophy with myositis" of the mouse (MDM, genotype mdm/mdm) is caused by a spontaneous recessive mutation on chromosome 2. Skeletal muscles of MDM mice degenerate during the first few postnatal weeks and subsequently regenerate. The cellular and molecular mechanisms of this muscle disease are not yet understood. An inflammatory component as implied by its name seems unlikely. By applying quantitative electron microscopy, we demonstrate a transient increase of up to 4-fold in the satellite cell frequency in both fast and slow muscles of affected animals. This difference from wildtype controls (+/+ or +/mdm) is also reflected in the yield of mononucleate myogenic cells upon dissociation of skeletal muscle and subsequent cell culture. Unlike the increase in satellite cell density in the myotonic ADR mouse, this phenomenon is not accompanied with a shift to more oxidative fibre types. It may however be related to the more profuse micro-vascularization of MDM muscle.

Animals↗
PubMed1989

Myopathy associated with AIDS.

We report 3 cases of AIDS complicated by muscular disease: 2 with acute polymyositis and 1 with severe noninflammatory myopathy. Tests for an alternative infectious etiology were negative. HIV may well have a tropism for muscle tissue.

Acquired Immunodeficiency Syndrome↗
PubMed2005

Involvement of clusterin and the aggresome in abnormal protein deposits in myofibrillar myopathies and inclusion body myositis.

Myofibrillar myopathies (MM) are characterized morphologically by the presence of non-hyaline structures corresponding to foci of dissolution of myofibrils, and hyaline lesions composed of aggregates of compacted and degraded myofibrillar elements. Inclusion body myositis (IBM) is characterized by the presence of rimmed vacuoles, eosinophilic inclusions in the cytoplasm, rare intranuclear inclusions, and by the accumulation of several abnormal proteins. Recent studies have demonstrated impaired proteasomal expression and activity in MM and IBM, thus accounting, in part, for the abnormal protein accumulation in these diseases. The present study examines other factors involved in protein aggregation in MM and IBM. Clusterin is a multiple-function protein which participates in Abeta-amyloid, PrP(res) and a-synuclein aggregation in Alzheimer disease, prionopathies and a-synucleinopathies, respectively. gamma-Tubulin is present in the centrosome and is an intracellular marker of the aggresome. Moderate or strong clusterin immunoreactivity has been found in association with abnormal protein deposits, as revealed by immunohistochemistry, single and double-labeling immunofluorescence and confocal microscopy, in MM and IBM, and in target structures in denervation atrophy. Gamma-Tubulin has also been observed in association with abnormal protein deposits in MM, IBM, and in target fibers in denervation atrophy. These morphological findings are accompanied by increased expression of clusterin and gamma-tubulin in muscle homogenates of MM and IBM cases, as revealed by gel electrophoresis and Western blots. Together, these observations demonstrate involvement of clusterin in protein aggregates, and increased expression of aggresome markers in association with abnormal protein inclusions in MM and IBM and in targets, as crucial events related to the pathogenesis of abnormal protein accumulation and degradation in these muscular diseases.

Adult↗
PubMed2000

[Gamstorp's disease in a Marseilles family].

BACKGROUND: Primary periodic palsy is a group of muscular diseases transmitted by autosomal dominant inheritance. The characteristic features are flaccid muscular deficiency, abolition of reflexes, and dyskalemia. CASE REPORT: A 36-year-old woman presented a 5-year history of acute episodes of myalgia, muscle contracture, and muscle paralysis involving first the hand, then all four limbs and the face, sparing the respiratory muscles. The symptoms totally regressed spontaneously within one hour or in a shorter time if the patient ingested sugar. Demonstration of hyperkalemia during an acute episode led to the diagnosis of transfer hyperkalemia typical of Gamstorp's disease. Several members of the family presented identical symptoms. DISCUSSION: Despite progress in our understanding of this disease, diagnosis is often made late. The diagnostic strategy is however quite simple: serum potassium during an acute episode and provocation test with fasting and rest.

Adult↗
PubMed1987

[Histogenesis, degeneration, regeneration and adaptation, aging and compensation in the skeletal muscles].

The concept of multicellular histogenesis of skeletal muscle fibre is the basis for understanding embryonal genesis of the voluntary muscles as well as muscle fibre regeneration. Formation and maintenance of the neuromuscular units are preconditions for function. Embryonic development and histogenesis regeneration are described. Changes resulting from metabolic defects, trauma, neurogenic and muscular disease are contrasted. Changes in nerves and synaptic junctions due to degeneration and regeneration are illustrated. Alteration in fibre type composition and muscle fibre diameter are regarded as the principle form of muscle adaptation to a changed loads. A central nervous system mechanism influencing fibre type and a peripheral humoral mechanism influencing the magnitude of peripheral motor units are postulated. The role of intramuscular sprouting is underlined. The structurally recognizable correlates of aging, such as decreased fibre diameter, increasing fibre type grouping and reduction of the total number of muscles fibres should be viewed as physiological phenomena. Sensomotor regulation of compensatory mechanism of muscular activity including fibre type grouping, compensatory hypertrophy, target fibres and ring fibres results in distinctive patterns under etiologically distinct pathological conditions.

Aging↗
PubMed1997

[New electromyographic test for orthopedic diagnosis. Part II].

This study deals with mathematical assessment of physiologic and pathologic EMG frequency distribution by means of ranging. Material consisted of 161 pathologic EMG (63 myogenic cases, 98 neurogenic cases). In physiologic EMG power density distribution shows the highest values between 50 and 100 Hz, the lowest between 200 and 250 Hz. From 0 to 50 Hz power density increases, from 100 to 250 Hz-decreases. In patients with muscular diseases of different etiology the EMG power density spectrum is markedly different. The highest values appear more frequently between 0 and 50 Hz, sometimes also between 100 and 150 Hz. The frequency distribution allows mainly for assessing intensity of EMG pathology; is less useful for determination of its type.

Dermatomyositis↗