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At least 1,207 records · Page 67Linked to original sources
PubMed1987

[Progressive Duchenne muscular dystrophy: general practice aspects of diagnostic assessment].

The analysis of 57 cases of Duchenne muscular dystrophy (DMD) from W.-Germany outlined an average delay in motor development with an extended period of time between learning to stand and to walk. 33 patients could not walk when they were 16 months old. At the age of 27 months people without medical training generally noticed first symptoms. Unexpectedly often quantitative deficiencies in movements became evident. On average 26 months passed until DMD was diagnosed. To improve the situation, the authors propose a selective screening of boys who are not able to walk without help when they are 16 months old (90th percentile for healthy children).

Child↗
PubMed1990

Diaphragm muscle pathology in Fukuyama type congenital muscular dystrophy.

The diaphragm muscle pathology in four patients with Fukuyama type congenital progressive muscular dystrophy (FCMD) was reported. In the diaphragm muscle fibers of three patients aged more than 14 years exhibiting chronic respiratory failure, a lot of electron dense lesions, which varied in size but did not extend over the whole length of the muscle fibers, and a marked increase in mitochondria were observed as well as the dystrophic changes. The dense lesions, consisting of electron dense fibrillary material comparable to Z-band materials in electron density, seemed to be due to Z-band disruption leading to streaming and/or large aggregations of Z-band materials. No mitochondria or other microorganelles were found in these dense lesions. These findings are thought not to be specific to FCMD, but seem to reflect diaphragm muscle fatigue, because, there were no such lesions in the diaphragm muscle of a 2-year-old infant not exhibiting chronic respiratory failure or in muscle at other sites in all patients.

Adolescent↗
PubMed2000

Disability, coping and quality of life in individuals with muscular dystrophy: a prospective study over five years.

PURPOSE: The present study investigates progressive muscular dystrophy over a five year period. The purpose is twofold: to describe changes over time and to investigate relations between disability, coping and quality of life. METHOD: The study group comprised 45 adults (16 men and 29 women), with an average age of 44 years. All were assessed in 1991 and 1996, with the following instruments: the ADL staircase, the Self-report ADL, the Mental Adjustment to Cancer scale, the Sickness Impact Profile and the Psychosocial well-being questionnaire (Kaasa). RESULTS: Increasing disability was accompanied by an increase in dependence on others and a significant deterioration of health-related quality of life and with regard to 'Satisfaction'. The predominant type of coping was 'Fighting spirit', whilst 'Fatalism' showed the greatest decline over time. 'Ambulation' and the ADL staircase correlated with 'Physical index' on the SIP. Correlations between disability, coping and quality of life were moderate. The results can serve as a basis for planning and evaluation of recurring rehabilitation for persons with MD.

Activities of Daily Living↗
PubMed1979

Muscular dystrophy in six young girls.

Clinical and genetic studies were made on progressive muscular dystrophy in six young girls. No chromosome abnormality was observed in these patients. The pedigree of one case implied a sex-linked recessive trait, and clinical features were identical with Duchenne dystrophy. The clinical manifestations of two sisters in another family were less severe than in their brother with Duchenne dystrophy. The clinical differences among these three cases are well explained by the Lyon hypothesis. Three other cases were compatible with childhood muscular dystrophy of autosomal recessive inheritance.

Adolescent↗
PubMed1977

Enzyme alteration in skeletal muscle of mice with muscular dystrophy.

1. Developmental enzyme alterations were investigated in skeletal muscle of the hereditary progressive muscular dystrophy (PMD) mice of C57BL/6J strain. 2. Enzymes examined were classified into three groups according to changes of activities in dystrophy muscle during ageing. Activities of creatine kinase (EC 2.7.3.2), pyruvate kinase (EC 2.7.1.40), glycogen phosphorylase (EC 2.4.1.1), and fructose-biphosphate aldolase (EC 4.1.2.13), each of which had the respective muscle specific isoenzyme of extremely high activity in normal adult skeletal muscle, decreased rapidly in dystrophy muscle from the early stage of the disease with ageing. Activities of glycogen synthase (EC 2.4.1.11) and hexokinase (EC 2.7.1.1) were higher in dystrophy muscle in the early stage but decreased gradually to lower levels than those in the control with ageing. Activities of glucose-6-phosphate dehydrogenase (EC 1.1.1.49) were always much higher in dystrophy muscle than in the control, with no relation to ageing. 3. Isoenzymes of creatine kinase, pyruvate kinase and phosphorylase in dystrophy muscle were mainly the muscle types, indicating that muscle differentiation was not blocked profoundly even in dystrophy muscle. In limited cases, especially in the early stage of the disease, very weak activities of the non-muscle fetal type isoenzymes of creatine kinase and phosphorylase were detected, apparently associated with partial muscle regeneration in dystrophy muscle.

Aging↗
PubMedDate not supplied

[Sarcoglycanopathies, a particular limb-girdle muscular dystrophy type (phenotype in three Polish families): initial report].

Sarcoglycanopathies are relatively rare progressive muscular dystrophies. They belong to the so-called group of limb--girdle muscular dystrophies. They are inherited in an autosomal recessive fashion. Their phenotype resembles dystrophinopathies, because of proximal muscle weakness and frequent calves hypertrophy. Here we present the first Polish families in which sarcoglycanopathy was diagnosed.

Adolescent↗
PubMed1979

Erythrocyte membrane protein kinase and adenylate cyclase in Duchenne muscular dystrophy.

In freshly prepared erythrocyte membranes from normal individuals and patients with Duchenne progressive muscular dystrophy the endogenous protein kinase and the cAMP stimulated phosphorylation was identical for the 3 main32P proteins including spectrin (protein band II). Another enzyme, adenylate cyclase, was found unchanged. Altered protein kinase and adenylate cyclase have been reported in this disorder. We have no explanation for these discrepancies.

Adenylyl Cyclases↗
PubMed1982

[Hemopexin and muscular dystrophy. Diagnosis of carriers of the Duchenne form].

In twelve patients suffering from progressive muscular dystrophy of the Duchenne type and 26 female conductors, 27 patients presenting other forms of muscular dystrophy, 20 unconspicuous family members and in other neuromuscular affections, the haemopexin level was determined besides the cratinine kinase value. Pathological increases in the haemopexin level were found in 17 per cent of the Duchenne patients and in 19 per cent of the conductors as well as in various degrees in patients with other neuromuscular affections. Only eight per cent of the conductors showed an isolated increased haemopexin value, so that the question of a genetic control of the haemopexin level independent of a muscular affection arises. No additional information is obtained by the haemopexin determination for the recognition of conductors.

Adult↗
PubMed2001

Clinicopathological study on eyes from cases of Fukuyama type congenital muscular dystrophy.

Fukuyama type congenital muscular dystrophy (FCMD) is an autosomal recessive disorder characterized by progressive muscular dystrophy and dysgenesis of the central nervous system and eyes. To clarify the pathomechanism of the ocular involvement in FCMD, we performed postmortem pathological analyses of eyes from three postnatal FCMD cases, two fetal FCMD cases, and three control cases by macroscopic, histopathological, immunohistochemical and in situ hybridization approaches. The macroscopic and histopathological examinations revealed a variety of ocular abnormalities such as folding, fusion or dysplasia of the retinas in the FCMD cases both with and without ophthalmological alterations. Immunoreactivities for collagen IV and laminin, produced by Müller cells, as the basement membrane components, were less intense in the inner limiting membrane of the FCMD retinas than in that of the control retinas. A number of the perivascular glial cells containing S-100 protein and glial fibrillary acidic protein were increased in the postnatal FCMD cases. Immunoreactivities for vimentin, glutamate transporter-1, glutamine synthase and ornithine aminotransferase, expressed in the Müller cells, were undetectable in the fetal FCMD retinas, and reduced in the postnatal FCMD retinas compared with the control retinas. Fukutin mRNA signals were distributed diffusely in the retinoblast layer of the control retinas, focally in the retinoblast layer of the fetal FCMD retinas, and only in the dysplastic areas with rosette formation of the postnatal FCMD retinas, composed of retinoblasts and other retinal cells including the Müller cells. The present findings suggest that the Müller cells are implicated in the retinal pathology of FCMD.

Adolescent↗