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Results for “PROGRESSIVE MUSCULAR ATROPHY”

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At least 1,099 records · Page 61Linked to original sources
PubMed1989

[A case of Kennedy-Alter-Sung syndrome associated with external ophthalmoplegia--therapeutic efficacy of fluoxymesterone].

We reported a case with Kennedy-Alter-Sung syndrome (KAS) associated with bilateral external ophthalmoplegia. The patient had movement disturbance of bilateral infra-oblique muscles. The doll's eye phenomenon was not noted. It was suggested that the external ophthalmoplegia was due to the involvement of the oculomotor nucleus that innervated infra-oblique muscle. The serum levels of testosterone and gonadotropin were high, suggesting that the feminization of KAS patients was caused by androgen insensitivity. The feminization of KAS patients is similar to the incomplete form of testicular feminization syndrome except that they do not have feminization of genitals. Therefore, we proposed that abnormalities of androgen receptors might play a role in the pathogenesis of KAS. Fluoxymesterone therapy significantly improved the muscle weakness of the extremities of the patient, even though the therapeutic efficacy was shown temporarily. The therapeutic efficacy of fluoxymesterone for muscle weakness supports our hypothesis.

Androgen-Insensitivity Syndrome↗
PubMed1996

Neonatal perifascicular myopathy.

Perifascicular atrophy of muscle fibers is generally considered to be a specific feature of autoimmune myopathies, dermatomyositis in particular. We describe a neonate presenting with hypotonia and weakness. A biopsy revealed atrophic and regenerating muscle fibers in a perifascicular distribution, and abnormal alkaline phosphatase activity in neighboring perimysial connective tissue. The weakness was nonprogressive and improved on follow-up even though no long-term treatment was administered. We conclude that the presence of perifascicular myopathic changes and muscle fiber atrophy in infants presenting with hypotonia and weakness is neither diagnostic of progressive dermatomyositis, nor a necessary indication for immunosuppressive therapy.

Biopsy↗
PubMedDate not supplied

Ocular findings in muscle-eye-brain (MEB) disease: a follow-up study.

We present ocular findings of 20 patients with the recessively inherited muscle-eye-brain (MEB) disease, characterised by severe visual failure, mental retardation, a pachygyria-polymicrogyria type neuronal migration disorder and congenital muscular dystrophy. The ocular findings consisted of myopia ranging from -6 to -27 D, retinal degeneration and optic atrophy. Five infants had congenital glaucoma, and juvenile cataracts developed in 9 children. The visual evoked potentials were abnormally high (> 50 microV) and delayed in 70% of patients. The electroretinogram was abolished in 12 patients. The changes were progressive during the follow-up time, which was up to 20 years.

Adolescent↗
PubMed1996

[Proximal spinal muscular atrophy in the adult].

Based on personal experience and recent advances in the molecular genetics of spinal muscular atrophies (SMA), the author reviews the main features of adult SMA predominantly affecting the proximal musculature. Hereditary SMA forms linked to characteristic chromosome abnormalities are distinguished from those that have not been linked to any known gene. Among the first type, recessive autosomal inherited forms linked to chromosome 5 are mentioned and the description is extended to progressive bulbar-spinal amyotrophy and Kennedy syndrome, linked to the X chromosome, whose gene also codifies androgenic receptors, constituting a syndrome with clear neuro-endocrine involvement. In dealing with SMA forms that have not been linked to a gene, the author details, always from personal experience, those with scapuloperoneal involvement, of which Stark-Kaeser syndrome is the prototype. Finally, the author discusses non hereditary types, covering current knowledge of chronic anterior poliomyelitis, the concept of monomelic spinal muscular atrophy and post-poliomyelitis muscle syndrome. The author's extensive personal bibliography completes the chapter.

Adult↗
PubMed2001

Evaluation of the dystrophin-glycoprotein complex, alpha-actinin, dysferlin and calpain 3 in an autosomal recessive muscular dystrophy in Labrador retrievers.

Labrador retrievers suffer from an autosomal recessive muscular dystrophy of unknown aetiology. Dogs affected with this disease develop generalized weakness associated with severe, generalized skeletal muscle atrophy and mild elevations in creatine kinase in the first few months of life. The severity of signs tends to progress over the first year of life but can vary from mild exercise intolerance to non-ambulatory tetraparesis. Beyond 1 year of age, the signs usually stabilize and although muscle mass does not increase, affected dogs' strength may improve slightly. The pathological changes present on muscle biopsy include marked variation in muscle fibre size with hypertrophied and round atrophied fibres present. There is an increased number of fibres with central nuclei and split fibres can be seen. It has been suggested that the disorder is a model for limb-girdle muscular dystrophy. In recent years, mutations in genes encoding the proteolytic enzyme, calpain 3, a novel protein named dysferlin, and components of the dystrophin-glycoprotein complex have been identified as causes of autosomal recessive limb-girdle muscular dystrophy. We have evaluated these proteins in normal dogs and in three Labrador retrievers with autosomal recessive muscular dystrophy using immunohistochemistry and Western blot analysis on frozen skeletal muscle. The results demonstrate that dystrophin, the sarcoglycans, alpha-actinin, dysferlin and calpain 3 are present in the normal and affected dogs. We conclude that this autosomal recessive muscular dystrophy is not due to a deficiency of alpha-actinin, or any of the known autosomal recessive limb-girdle muscular dystrophy proteins, although we cannot rule out a malfunction of any of these proteins.

Actinin↗
PubMed1992

Werdnig-Hoffmann disease and chronic distal spinal muscular atrophy with apparent autosomal dominant inheritance.

We report on a family in which both Werdnig-Hoffmann disease (severe infantile-onset spinal muscular atrophy) and chronic distal spinal muscular atrophy occurred, with apparent autosomal dominant inheritance. The female proband clinically had Werdnig-Hoffmann disease and died at 10 months. In their second decade of life, the proband's father and his 2 brothers developed bilateral progressive atrophy and weakness of the hands and mild weakness in the distal parts of the legs. Their mother had no symptoms or signs of motor neuron disease but electromyography revealed distal denervation of the limbs. While the family studies suggest autosomal dominant inheritance, it is possible that the proband's condition was influenced by a maternally derived allelic or modifying trait.

Adult↗
PubMed2003

Motor neuron involvement in a patient with long-term corticosteroid administration.

An asthmatic patient with corticosteroid treatment for 45 years presented with slowly progressive limb muscle atrophy. His muscle symptoms were involved in four limbs and tongue, and deep tendon reflexes were exaggerated. Biopsied muscle pathology indicated the presence of neurogenic muscular atrophy in combination with corticosteroid myopathy. Furthermore, 8-hydroxy-deoxyguanosine (8-OH-dG) was prominently increased in mitochondrial and nuclear DNA. An aerobic exercise test demonstrated remarkable serum lactate elevation, which was attenuated by the administration of coenzyme Q10. These findings are consistent with the assumption that long-term corticosteroid administration potentially induces not only myopathy but also motor neuron involvement as in mitochondrial diseases.

Aged↗
PubMed1976

[Morphological characteristics of the myocardium of rabbits in experimental arteriosclerosis].

Histological, histochemical, and electron-microscopy studies of the myocardium of 70 rabbits were conducted; experimental atherosclerosis of the aorta in rabbits was caused by periodic four-fold fasting in combination with additions of crystal cholesterol to the diet. Along with the development of the ahterosclerofic process in the aorta, in the myocardium there were noted changes in the endothelium of capillaries, a more intensive production of acid polysaccharides by fibroblasts, a progressing development of the collagenous stroma, a higher heterogeneity of the contractile myocardium, and grave impairment of the structure and functions of the mypcardial cells (appearance of atrophying muscular cells with a decrease in the number of myofibrils) long before the onset of morphological changes in the coronary arteries.

Animals↗
PubMed1989

[Brachial irradiation plexopathy].

Irradiation neuropathy is a term for the damage to peripheral nerve tissue due to irradiation. Brachial irradiation plexopathy is irradiation neuropathy affecting the brachial plexus. This is most frequently a complication of irradiation therapy for cancer of the breast. The incidence varies considerably and is lowest with low total doses of irradiation and limited fractions. The latent period varies from months to several years. The neurological manifestations are paraesthesiae in the fingers, pain, hypaesthesia, hypalgesia, disaesthesia, paresis, hyporeflexia, muscular atrophy and possibly vegetative disturbances. Horner's syndrome may occur. Lymphoedema is observed in approximately on third of the patients. The course of brachial irradiation plexopathy is progressive. No specific treatment is available. The diagnosis is based on the case history, clinical picture, electrodiagnosis and CT of the brachial plexus region. The most important differential diagnosis is metastatic infiltration in the brachial plexus. These two conditions are differentiated best by means of CT guided surgical exploration and histological examination of the tissue. The irreversible nature of brachial irradiation plexopathy and its marked resistance to treatment are such that the optimal irradiation hygienic rules must be observed.

Brachial Plexus↗
PubMed1996

[The pathogenesis of duodenal stasis].

The authors consider that the intraduodenal pressure is directly dependent on hypertrophy of the muscular layer of the duodenum wall. The formation of the duodenal stasis is followed by progressing elevation of the intraduodenal pressure, hypertrophy of myocytes, first hypertrophy and then atrophy of nerve cells of the ganglionic plexus.

Adolescent↗
PubMed1976

[Systolic time intervals of the left ventricle in neuromuscular diseases].

In 64 patients having neuromuscular disease and in 11 healthy persons, preejection period (PEP), ejection time index (LVETI) and PEP/LVET ratio of the left ventricle were studied by indirect method. PEP was significantly longer, ejection time index was significantly shorter and PEP/LVET ratio was significantly higher in patients with progressive muscular dystrophy than healthy persons. In 75% of patients having this disease LVETI was shortened and only in 30% of them Ecg abnormalities could be detected. These findings are postulated to be due to diffusely decreased contractility of the left ventricular heart muscle in progressive muscular dystrophy.

Adult↗
PubMed2000

Heterogeneity of classic congenital muscular dystrophy with involvement of the central nervous system: report of five atypical cases.

A heterogeneous group of patients with congenital muscular dystrophy associated with clinical or radiologic central nervous system involvement other than the severe classic form with merosin deficiency, muscle-eye-brain disease, and Walker-Warburg syndrome is described. A probable hereditary or familial occurrence could be suggested in all patients. One merosin-positive patient presented severe motor incapacity and cerebral atrophy without any clinical manifestation of central nervous system involvement. A second patient, also merosin-positive, had moderate motor and mental handicap, and epilepsy with no changes in neuroimaging. A third patient, found to have partial merosin deficiency by muscle biopsy, manifested severe psychomotor retardation and cerebral atrophy with foci of abnormal white-matter signal on magnetic resonance imaging. Finally, two merosin-positive siblings with microcephaly, mental retardation, and an incapacitating progressive neuromuscular course, exhibited cataracts without defects of neuronal migration or brain malformation. This report emphasizes the broad clinical spectrum and heterogeneity of merosin-positive congenital muscular dystrophy with associated central nervous system involvement, and illustrates the importance of further studies on clinical, immunohistochemical, and genetic grounds for identifying new subsets of congenital muscular dystrophy.

Atrophy↗