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Results for “Muscular Disorders, Atrophic”

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PubMed1984

Changes in the distribution of fast and slow forms of troponin I in some neuromuscular disorders.

As judged from the atrophy of the muscle cells, the distribution of slow and fast troponin I in type I and type II cells in peripheral neuropathies in the adults (24-67 years of age) was unaffected for long periods after denervation. Reinnervation by fast or slow nerve in chronic neuropathies usually resulted in typical fibre type grouping with complete segregation of slow and fast troponin I in type I and type II cells, respectively. Intermediate fibres (slow and fast troponin I in the same cell) were present during the course of transformation. Unlike peripheral neuropathies, the number of cells staining for slow troponin I in the very atrophic fascicles in spinal muscular atrophy was considerably reduced. The synthesis of fast troponin I was stimulated in original type I cells containing slow troponin I. These observations support the experimental data (Dhoot and Perry 1982b) that the suppression of fast troponin I in type I or presumptive type I cells requires innervation by the slow nerve. Its absence results in an increased expression of fast troponin I in cells that originally contained only slow troponin I. Once suppressed, fast troponin I is absent in type I cells even after long periods of experimental denervation or cases of human peripheral neuropathies but not so in the cases of spinal muscular atrophy.

Adult↗

PubMed2001

Early and selective disappearance of telethonin protein from the sarcomere in neurogenic atrophy.

Mutations of the human telethonin gene have recently been shown to cause limb girdle muscular dystrophy type 2G in three Brazilian families. The mRNA has been shown to be dynamically regulated in animals, however, the fate of the protein in human muscle is unknown. In order to assess the expression of telethonin in more frequently encountered myopathological conditions we generated and characterized a rabbit antiserum raised against the C-terminal end of telethonin by immunoblotting and immunogold EM. Indirect immunofluorescence analysis of a wide variety of neuromuscular disorders including dystrophinopathies, metabolic myopathies, denervation disorders, congenital and inflammatory myopathies revealed that the characteristic Z-band staining of telethonin was preserved in all disease entities included in our study. However, a reduced telethonin immunoreactivity was observed in up to 10% of type II fibers in 10 cases of neurogenic atrophy. A decreased telethonin staining was more frequently observed in early stages of fiber atrophy than in type II fibers displaying normal or highly atrophic fiber diameters. Hence, not only the telethonin transcript is rapidly downregulated in denervated muscle but the protein itself undergoes dynamic changes while its known sarcomeric binding partner titin remains unaltered. Beyond its role as a static component of Z-bands, these findings indicate that telethonin protein levels seems to be at least in part regulated by neuronal activity and is thus linked to the dynamic control of myofibrillogenesis and muscle turnover in human skeletal muscle.

Blotting, Western↗

PubMed1988

Nutritional status in alcoholics with and without chronic skeletal muscle myopathy.

There was a significant reduction in body mass index (15%) and creatinine-height index (22%) in the chronic alcoholics with atrophic quadriceps biopsies indicating significant loss of skeletal muscle protein. Various parameters of nutrition were assessed in chronic alcoholics with and without the commonly associated selective atrophy of type II skeletal muscle fibres, to determine if malnutrition is related to the muscle injury. Serum alkaline ribonuclease activity, a marker of protein nutritional status, was significantly higher in chronic alcoholics compared to controls, suggesting some degree of overall protein malnutrition. However there was no significant difference in this enzyme activity between alcoholics with and without atrophic muscle biopsies. Deficiencies of one or more of thiamine, riboflavin, pyridoxine, Vitamin B12 and folate were found in half of the chronic alcoholics. There was no preponderance of such vitamin deficiencies among those patients with atrophic muscle biopsies. It is concluded that the quadriceps type II fibre atrophy is accompanied by a generalised decrease in skeletal muscle mass and that it is not primarily related to the patient's nutritional status.

Alcoholism↗

PubMed2003

Nemaline myopathy: a possible late complication of Hodgkin's disease therapy.

Patients who have undergone "mantle" field irradiation for Hodgkin's disease may develop symptomatic muscle atrophy in the treatment portal. This complication has received only scant attention in the clinical literature and its pathologic substrate has not been elucidated. We report the finding of nemaline myopathy in the previously irradiated and atrophic trapezius muscle of such a patient. Biopsy of clinically uninvolved gracilis muscle outside of the radiation portal revealed normal histology and ultrastructure. We are unaware of previous reports documenting such a phenomenon, which suggests that nemaline myopathy may evolve as a radiation-related disorder.

Adult↗

PubMedDate not supplied

Fine structure of muscle in human disuse atrophy: significance of proximal muscle involvement in muscle disorders.

The universal occurrence of weakness of skeletal musculature on disuse, however produced, and the paucity of published reports on the fine structural changes in human disuse atrophy, prompted the present investigation. The quadriceps muscle of a leg immobilized in plaster cast (for fracture) and of the opposite non-immobilized limb was biopsied in four adult males, after periods of immobilization from 50 to 75 days. These 8 muscle specimens were examined for histopathological changes, and muscle fibre diameters were measured by micrometry from paraffin sections. The histograms revealed a larger proportion of small fibres (less than 20 micron) and a smaller proportion of large fibres (greater than 40 micron) in the immobilized limb compared to the opposite. Thus, light microscopy showed only atrophic changes. This was confirmed by electronmicroscopy, where atrophy of few to several muscle fibres was seen in the form of loss of myofibrils, collapse and folding of the basement membrane and prominence of glycogen or muscle nuclei. The atrophic change was more severe in the immobilized limbs, but it was also noticeable in all the non-immobilized limbs. Degenerative changes, especially disorganization and breakdown of myofibrils, and fragmentation of plasma membrane, were also seen in occasional atrophied muscle fibres, again more frequently in the immobilized limb. Lipofuscin was often found accumulated in muscle fibres and occasionally in endothelial cells of intramuscular blood vessels; the latter showed prominent pinocytotic vesicles or thickened basement membrane. It is concluded that both atrophy and degeneration of fibres of proximal muscles can occur as non-specific consequences of disuse of the limb in man, that degeneration is a latter and more severe change, that muscles even of the non-immobilized leg are subjected to disuse atrophy during bed-rest, and that the proximal muscles in man seem to have a natural susceptibility to atrophy and degeneration in any muscular disorders.

Adult↗

PubMedDate not supplied

[Oculopharyngeal muscular dystrophy. Description of a case with involvement of the central nervous system].

A sporadic case of oculopharyngeal muscular dystrophy occurred in a 74-year-old woman is described. High levels of IgA and IgG in the serum, and esophageal smooth muscle involvement are shown. Electromyography of several limb muscles displayed myopathic pattern with giant polyphasic motor unit potentials, suggesting superimposed denervation. The histological examination of peroneus brevis muscle biopsy specimen showed myopathic changes with dystrophic features, associated with neurogenic changes, including atrophic angulated fibers, small-group atrophy and type-grouping: concomitant involvement of spinal motor neuron pathway is hypotized, normal values of motor and sensory nerve conduction velocities excluding associated polineuropathy. Furthermore, Somatosensory Evoked Potentials recording revealed bilaterally increased Central Conduction Time. Referring to other similar cases previously reported in the literature, the significance of neurogenic involvement in oculopharyngeal muscular dystrophy is discussed.

Aged↗

PubMedDate not supplied

The otolaryngologic presentation of amyotrophic lateral sclerosis.

Amyotrophic lateral sclerosis is a progressive dengenerative neuromuscular disease of insidious onset. It involves upper and lower motor neurons and causes both spastic and atrophic muscular symptoms. More than one fourth of patients have complaints relating to the head and neck (bulbar palsy); thus, the otolaryngologist may be the first physician to see them. Predominant symptoms are slurred speech, hoarseness, dysphagia, and dyspnea. Muscular weakness, atrophy, and fasciculation are noted on examination. The course is relentless, and only 20% of patients survive five years after diagnosis.

Adult↗

PubMed1983

Intracytoplasmic inclusions in the atrophic muscle fibers in Werdnig-Hoffmann disease.

In the biopsied muscle from a male infant having clinical and pathological characteristics of Werdnig-Hoffmann disease, unusual intracytoplasmic inclusions measuring from 1.5-7 micron in dimension were observed in approximately 3% of the atrophic fibers. Although the ultrastructural characteristics of the inclusion were almost identical to that of "cytoplasmic body" seen in various neuromuscular disorders, which showed somewhat different histochemical reactions. This unusual structure was assumed to have originated from degenerated myofibrils and possibly from mitochondria, while the significance of the body formation still remains to be solved.

Humans↗

PubMed2006

Familial reducing body myopathy.

Reducing body myopathy (RBM) is a rare pathologically defined myopathy characterized by the presence of inclusion bodies which are abnormally stained by menadione-nitroblue-tetrazolium. The clinical symptoms vary widely as to the age of onset, disease progression and severity. Among the many reported patients, there have been only three families with this disorder, showing a manifold of clinicopathological features in each family. We report a fourth family with RBM affecting a boy and his mother. The proband (boy) began to have difficulty putting on his trousers at age 10years and difficulty arising from a chair at 11years. His spine was rigid. His mother, on the other hand, noticed foot-drop at the age 29, but the clinical course was rapidly progressive, and she was wheelchair-bound at 34years. Both patients had generalized muscle weakness and atrophy and with mild CK elevation. Muscle pathology was characterized by the presence of atrophic fibers with reducing bodies in some areas. As these patients demonstrate, clinical symptoms in RBM are very variable, even within the same family. There are no specific clinical characteristics distinctive to RBM, thus further studies are necessary to characterize this disorder both clinically and pathologically.

Adult↗

PubMed1983

A fluorescent microscopy study of biopsied muscles from infantile neuromuscular disorders.

The Acridine Orange (AO) stain for muscle biopsies is particularly useful to identify regenerating and ongoing hypertrophic muscle fibers under fluorescent microscopy. This method was applied to muscle biopsies from 65 patients who suffered from various childhood neuromuscular disorders. While normal fibers showed dull green cytoplasm with small green-yellow nuclei, striking fluorescent fibers were observed in eight cases of congenital muscular dystrophy (CMD) and 12 cases of Duchenne muscular dystrophy (DMD); these fibers were characterized as follows: (1) small fibers with big oval or spherical nuclei which fluoresced strongly with a bright orange color; (2) fibers of various sizes and different degrees of orange fluorescence; and (3) opaque fibers with bright yellow cytoplasm. The small diameter fibers in Werdnig-Hoffmann (WH) disease, nemaline myopathy, and congenital fiber type disproportion failed to show apparent AO-RNA fluorescence. Although all the atrophic fibers in Kugelberg-Welander (KW) disease showed a vague orange fluorescent color, this was obviously different from that of regenerating fibers seen in CMD and DMD. In addition to these findings, the hypertrophic fibers in a case of unclassified myopathy also showed moderate orange fluorescence around the entire periphery of the cytoplasm.

Adolescent↗

PubMed1987

Chorea-amyotrophy with chronic hemolytic anemia: a variant of chorea-amyotrophy with acanthocytosis.

We studied two siblings with chorea and amyotrophy of adult onset and spherocytic hemolytic anemia. Autopsy revealed an atrophic striatum with iron deposition and spheroid bodies. Degeneration of the substantia nigra and spinal cord anterior horns was seen without iron deposition. The disorder seems to be a variant of the chorea-amyotrophy-acanthocytosis syndrome, and the pathology may account for evidence of parkinsonism and amyotrophy in that syndrome. Acanthocytosis may not be the only hematologic abnormality in this disorder.

Acanthocytes↗

PubMedDate not supplied

[Morphologic analysis of arrhythmogenic and non-arrhythmogenic zones of subendocardial areas of the heart in patients with rhythm disorders].

The signs of cardiomyocyte (CMC) apoptotic degeneration which is not specific for well differentiated heart tissue were found in both arrhythmogenic and non-arrhythmogenic subendocardial zones. Contracted and over contracted CMC with characteristic ultrastructure and damaged inserted discs as well as atrophic CMC and cells with apoptotic degeneration were observed in the arrhythmogenic heart zones. These changes amy play a role in the genesis of rhythm disturbances.

Adult↗

PubMed2000

Autoimmune and inherited subepidermal blistering diseases: advances in the clinic and the laboratory.

Anchoring complexes are specialized focal attachment sites within the cutaneous basement membrane zone (BMZ) and play a crucial role in dermo-epidermal adhesion. Structural weakness that may be caused by the binding of autoantibodies to components of the anchoring complex or by aberrant expression of these components as a result of genetic defects can lead to subepidermal blisters. Autoimmune subepidermal blistering disorders include bullous pemphigoid, pemphigoid gestationis, lichen planus pemphigoides, linear IgA disease, cicatricial pemphigoid, anti-p200, anti-p105, and anti-p450 pemphigoid, epidermolysis bullosa acquisita, and bullous systemic lupus erythematosus. The autoantigen in the skin of patients with dermatitis herpetiformis remains to be identified. More than 300 distinct mutations in 10 different genes corresponding to structural components of the BMZ have been described that result in skin fragility and dermo-epidermal separation associated with characteristic extracutaneous manifestations. This group of genodermatoses, collectively referred to as epidermolysis bullosa (EB), consists of distinct variants, such as EB simplex, EB with muscular dystrophy, EB with pyloric atresia, generalized atrophic benign EB, Herlitz junctional EB, and dystrophic EB. Recent advances in the molecular characterization of BMZ components have led to a better understanding of the interaction between these molecules as well as the autoimmune response against these proteins. In addition, by the elucidation of genetic defects in the different variants of EB, genotype-phenotype correlations now begin to arise and genetic counseling has been improved.

Autoimmune Diseases↗

PubMed1982

[Scleroderma with progressive facial hemiatrophy and atrophy of the other side of the body].

The authors report the case of a 28 year old woman suffering from a chronic polyarthritis with a linear sclerodermia and presenting a crossed atrophy involving the left side of the body and the right side of the face and neck. The polyarthritis began at age 6, with signs of systemic illness, resulting early in important joint disability and proceeding with exacerbations and remissions. From the onset of this polyarthritis the patient experienced in the left side of the body highly painful and frequent muscular cramps which became rarer with the occurrence and progression of atrophy on the same side. At age 15, the patient experienced similar cramps in the right face, followed by progressive right hemiatrophy. At age 28, examination showed crossed atrophy involving the left side of the body and the right side of the face, tongue and neck, associated in these territories with several atrophic plaques on the skin, circumscribed alopecia, as well as numerous joint sequella. The laboratory date yielded immunologic abnormalities. On the CT scan the brain was normal but the right facial hemiatrophy involving orbital region and pharynx was visible. On the muscular biopsy there were inflammatory changes in the atrophic territory. Skin biopsies were consistent with sclerodermia. Two clinical points should be emphasized. Firstly, the remarkably crossed topography of the atrophy: the upper limit of the left body atrophy corresponded with the lower limit of the right face and neck atrophy; secondly, the unusual features of the muscular cramps. The relationship between sclerodermic facial hemiatrophy and Parry Romberg syndrome are then discussed: the study of this case and the literature do not provide sufficient criteria to allow description of two separate entities. Finally, the pathogenesis of localized sclerodermia is considered; in this case the association with the immunologic abnormalities and chronic polyarthritis is in favor of the hypothesis of a systemic disorder.

Adult↗

PubMed1978

Quantitative analysis of voluntary muscles from routine autopsy material with special reference to the problem of remote carcinomatous changes ("neuromyopathy").

Specimens from the deltoid muscle of 210 randomly selected autopsy cases without previous clinical evidence of primary neuromuscular impairment were examined with regard to the influence of extramuscular diseases on voluntary muscle. Differences between malignant tumours and other disorders were of special interest with respect to the question of the possible existence of a remote effect of cancer on skeletal muscle. The number of central nuclei within muscle fibre cross sections was considered as the most simple parameter for myopathic reaction. Atrophic fibre changes were examined quantitatively by measurement of the orthogonal fibre diameters and calculating the variation of fibre size. In addition, a semi-quantitative histological evaluation of the muscles was performed. While tumor cases did not show a significant difference from the remainder with respect to myopathic changes, they did display a significant difference with regard to scattered and small-group fibre atrophy. The reasons for the muscular changes are discussed. From the present investigation the changes seem to be due chiefly to metabolic impairment and wasting. No signs for a specific carcinotoxic effect on skeletal muscles could be demonstrated.

Atrophy↗

PubMed1998

Malnutrition-induced hypokalemic myopathy in chronic alcoholism.

CASE REPORT: A 42-year-old man with a history of Billroth II-gastrectomy, chronic alcoholism, and malnutrition developed acute tetraparesis, two days before admission. He presented with bilateral, proximal upper and lower limb weakness, limb girdle wasting, bilaterally reduced Achilles tendon reflexes, and bilateral stocking-type sensory disturbances. Laboratory data revealed hypokalemia (2.2 mmol/L), elevated creatine kinase (7282 U/L), metabolic alkalosis and reduced urine potassium, albumin, and total protein. Muscle biopsy showed atrophic, necrotic, and regenerating fibers, endomysial macrophages, and vacuolar degeneration, interpreted as hypokalemic myopathy. With the correction of the serum potassium, tetraparesis rapidly resolved. With other causes excluded, malnutrition and gastrectomy were considered responsible for hypokalemia in this patient with acute tetraparesis and chronic alcoholism.

Acute Disease↗

PubMed1994

Hyperthermic reaction to haloperidol with rigidity, associated to central core disease.

A 21-year-old female patient with psychotic symptoms developed hyperthermia, muscular rigidity and hypertension after administration of haloperidol. A muscle biopsy showed some atrophic and necrotic fibers, and a great number of fibers with central cores in the oxidative enzyme preparations. A related syndrome, Malignant Hyperthermia (MH), is sometimes associated with central core disease. The present case shows an association of a hyperthermic syndrome related to haloperidol with central core disease.

Adult↗

PubMed2006

[Amyotrophic lateral sclerosis that begins with voice and deglution alterations].

Amyotrophic lateral sclerosis is a progressive degenerative neuromuscular disease of insidious onset. It involves upper and lower motor neurons and causes both spastic and atrophic muscular symptoms. More than one fourth of patients have complaints relating to the head and neck (bulbar palsy); thus, the otolaryngologist may be the first physician to see them. In bulbar forms of Amyotrophic Lateral Sclerosis, voice and/or swallowing difficulties are often the initial signs of disturbance. Predominant symptoms are slurred speech, hoarseness, dysphagia, and dyspnea. Muscular weakness, atrophy, and fasciculation are noted on examination. We show a case and revise bibliography.

Amyotrophic Lateral Sclerosis↗