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PubMed1997

A pilot trial of prednisone in facioscapulohumeral muscular dystrophy. FSH-DY Group.

Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant, 4q35-linked, slowly progressive muscular dystrophy with no known effective treatment. Since prednisone improves strength in Duchenne dystrophy, we performed a pilot, open-label trial of prednisone in eight subjects fulfilling strict diagnostic criteria for FSHD. Prednisone (1.5 mg/kg/day; maximum 80 mg/day) was administered for 12 weeks. Manual muscle testing, maximum voluntary isometric contraction testing, and muscle mass estimations by dual energy x-ray absorptiometry and urinary creatinine excretion were performed at baseline and at 12 weeks. There were no significant changes in strength or muscle mass. We conclude that prednisone given for 12 weeks does not produce major improvement in strength or increase muscle mass in FSHD. The study did not have sufficient power or length of follow-up to address the possibility that prednisone might arrest or slow disease progression.

Adolescent↗

PubMed1978

Protein kinase and adenylate cyclase of erythrocyte membrane from patients with Duchenne muscular dystrophy.

In freshly prepared erythrocyte membranes from normal individuals and from patients with Duchenne progressive muscular dystrophy the endogenous protein kinase and the cAMP stimulated phosphorylation was identical for the three main 32P proteins including spectrin (protein band II). Another enzyme, adenylate cyclase, was found unchanged. Altered protein kinase and adenylate cyclase has been reported in this disorder. We have no explanation for these discrepancies.

Adenosine Triphosphate↗

PubMed1992

Duchenne muscular dystrophy in Tunisia: a clinical and morphological study of 77 cases.

Two types of progressive muscular dystrophy occur in Tunisian children. The first type is characterized by normal dystrophin assays and affects girls and boys in an autosomal recessive pattern of inheritance. The second type has the features of the typical Duchenne muscular dystrophy (DMD) and has abnormal dystrophin. Between 1974 and 1986, 77 patients with Duchenne muscular dystrophy were examined, 66 were biopsied. Among affected siblings and within family kindreds, we observed both clinical and histopathological variability. However, there was a close correlation between the clinical condition and the biopsy findings in each case, allowing accurate prediction of the patient's course and probable duration of the disease.

Adolescent↗

PubMed1988

Epidermolysis bullosa simplex associated with muscular dystrophy with recessive inheritance.

Epidermolysis bullosa with unusually severe clinical features was associated with progressive muscular dystrophy in two siblings. Light and electron microscopic examination revealed an intraepidermal cleavage confirming that this mechanobullous disease belonged to the epidermolysis bullosa simplex group. This may represent a new disease entity inherited in an autosomal-recessive fashion.

Adolescent↗

PubMed2005

Ultrastructure of diaphragm from dystrophic alpha-sarcoglycan-null mice.

alpha-Sarcoglycan is a 50 kDa single-pass transmembrane glycoprotein exclusively expressed in striated muscle that, together with beta-, gamma-, and delta-sarcoglycan, forms a sub-complex at the muscle fibre cell membrane. The sarcoglycans are components of the dystrophin-associated glycoprotein (DAG) complex which forms a mechanical link between the intracellular cytoskeleton and extracellular matrix. The DAG complex function is to protect the muscle membrane from the stress of contractile activity and as a structure for the docking of signalling proteins. Genetic defects of DAG components cause muscular dystrophies. A lack or defects of alpha-sarcoglycan causes the severe type 2D limb girdle muscular dystrophy. alpha-Sarcoglycan-null (Sgca-null) mice develop progressive muscular dystrophy similar to the human disorder. This animal model was used in the present work for an ultrastructural study of diaphragm muscle. Diaphragm from Sgca-null mouse presents a clear dystrophic phenotype, with necrosis, regeneration, fibre hypertrophy and splitting, excess of collagen and fatty infiltration. Some abnormalities were also observed, such as centrally located nuclei of abnormal shape, fibres containing inclusion bodies within the contractile structure, and fibres with electron-dense material dispersed over almost the entire cell. Additionally, unusual interstitial cells of uncertain identity were detected within muscle fibres. The abnormal ultrastructure of the diaphragm from Sgca-null mice is discussed.

Animals↗

PubMed1984

A genetic study of the Fukuyama type congenital muscular dystrophy.

A genetic study was carried out on 153 families with 186 Fukuyama type congenital progressive muscular dystrophy (FCMD) patients. Consanguineous marriage of parents was found in 41 families (26.80%). Inbreeding coefficients in the patients was 10 times as high as that of the general population. Both sexes were almost equally affected (M:F = 1.1:1.0). No single parent of the patients was affected. Recurrence among siblings was frequent (9 out of 41 siblings in offspring of related parents and 18 out of 110 siblings in offspring of unrelated parents were affected. The segregation ratio was 23.91-27.08% in offspring of related parents, 20.00-22.94% in offspring of unrelated parents, these values being not significantly different from the 25% expected from the assumption of autosomal recessive mode of inheritance. In the sample two twin pairs were included, of which one male isosexual pair was concordant. Sporadic cases were not significantly more numerous than expected. All these data indicate that the disorder is caused by homozygosity of an autosomal recessive gene. Frequency of the gene was estimated to be 5.2-9.7 X 10(-3) and frequency of the patients 6.9-11.9 X 10(-5). Mutation rate was estimated to be 6.9-11.9 X 10(-5).

Adolescent↗

PubMed1976

Muscular dystrophy of mink: a new animal model.

Muscular dystrophies comprise an important group of inherited disorders of man. Although the disease has been studied extensively, little is known about the underlying primary pathomechanisms. Consequently, treatment of patients is difficult and prognosis is poor. An animal model of muscular dystrophy is a useful research tool for approaching the basic problems of pathogenesis in muscle diseases. An inherited progressive muscular dystrophy of mink which resembles the amyotonic forms of human muscular dystrophy is currently under study. Clinically, the earliest sign is progressive muscular weakness and atrophy. Muscle enzyme activities in serum are usually elevated to pathologic levels. Urinary creatine/creatinine ratio is elevated. Pathologic changes are limited to skeletal muscle and are typical of those seen in amyotonic forms of human muscular dystrophy. These changes include variation in diameter size of muscle fibers, centralized nuclei, floccular and hyaline degeneration of scattered muscle fibers, increase in connective tissue in endomysial and perimysial areas, and regenerative attempts. Both type I and type II muscle fibers are involved in the disease process. Genetic studies indicate an autosomal recessive mode of inheritance. Although the primary defect in muscular dystrophy is traditionally thought to reside in skeletal muscle, recent studies have produced theories of primary involvement of other tissues and organ systems. These theories are presented and relationships to the traditional theory are discussed.

Animals↗

PubMed1991

[A case of facioscapulohumeral muscular dystrophy complicated with complete A-V block].

Myocardial involvement and serious electrocardiographic abnormalities are rare in patients with facioscapulohumeral (FSH) muscular dystrophy. We reported a case of FSH muscular dystrophy complicated with complete A-V block. The case was that of a 48 year-old male with the complaints of exertional dyspnea. His chest X-ray showed cardiomegaly, and the electrocardiogram recorded on admission showed complete A-V block. On the His bundle electrogram, complete A-H block and prolongation of H-V intervals were noted. Therefore, a permanent pacemaker was implanted, and he has been doing well for over 10 years after implantation. Although it is well known that serious electrocardiographic abnormalities are not infrequently associated with Duchenne's progressive muscular dystrophy (DMD), there are few reports about pacing therapy for patients with muscular dystrophy. Because the daily activity of patients with rapidly progressive type of muscular dystrophy such as DMD is at a very low level, they do not require pacing therapy. Whereas in patients with the FSH type of muscular dystrophy, which is a slowly progressive type, their daily activity is maintained at a high level. Therefore, pacing therapy should be recommended if the FSH type of muscular dystrophy is accompanied with serious bradyarrhythmias.

Facial Muscles↗

PubMed1987

Congenital muscular dystrophy of the Fukuyama type (FCMD) with severe myocardial fibrosis. A case report with postmortem angiography.

Autopsy findings of a 17-year-old Japanese male with the typical features of congenital muscular dystrophy of the Fukuyama type (FCMD) are presented. This case showed progressive muscular dystrophy and central nervous system malformation, accompanied by severe myocardial fibrosis. Large mitochondrial dense bodies were found in both the cardiac and skeletal muscle cells. Postmortem coronary angiography failed to reveal the presence of any obstructive lesions responsible for myocardial fibrosis. It was also demonstrated that abnormal vessels proliferating in an area of micropolygyria (MPG) in the cerebrum were branches of the cortical artery originating from the pia mater. The cerebral malformation was accompanied by basal skull deformities.

Adolescent↗

PubMed1990

[Dystrophin in the differentiation between Duchenne and Becker muscular dystrophies: an immunohistochemical study compared with clinical stage, serum enzymes and muscle biopsy].

Study of 55 cases of progressive muscular dystrophies (34 Duchenne, 12 Duchenne with residual dystrophin and 9 Becker patients) comparing age, age at the initial symptoms, duration of symptoms, levels of serum enzymes, degree of disability measured by the Vignos and Archibald scale, and the type and amount of dystrophin found in the muscle biopsies by immunofluorescence. Statistical analysis showed a tendency of the symptoms and progression of disease to be related with the low quantity of dystrophin in the biopsies. There was no difference in the parameter analysed between the Duchenne patients with and without residual dystrophin, as well as the Duchenne with residual dystrophin and Becker patients. There was an inverse relation with the amount of dystrophin and the endomysial connective tissue and fatty infiltration, and a direct relation with hypertrophic fibers and atrophic angulated fibers in the NADH-tetrazolium reductase. In the comments a discussion is made about the difficulties in differentiate Duchenne and Becker dystrophies, the cases with residual dystrophin and the importance of the correct diagnosis.

Adolescent↗

PubMedDate not supplied

[Presentation of a treatment concept of Duchenne muscular dystrophy with the aim at improvement and restoration of walking and standing ability].

A concept for treating progressive muscular dystrophy type Duchenne is presented. It aims at the improvement of quality of life by surgery of the lower extremities. 60 Duchenne patients were treated by a standard operating regime. The different stages of the disease required different postoperative rehabilitation measures.

Adolescent↗

PubMed1989

[Sequential changes of the cardiomyopathy in Duchenne muscular dystrophy by 201Tl myocardial SPECT].

201Tl myocardial SPECT was performed to evaluate cardiomyopathy in Duchenne type of progressive muscular dystrophy (DMD). Follow up SPECT images of the same patients were also obtained about 1 year after the first scan. Cases subjected to study were 10 DMD. At the first study the hypoperfusion area of the left ventricular muscle was observed in 6 cases (60%) out of 10. At the second study the hypoperfusion areas became wider and lower in 4 out of 6 cases (66.7%). The new hypoperfusion area which was not demonstrated at the first study was observed at the second study in one case of these cases. These results suggested that the positive rate of cardiomyopathy in DMD by 201Tl myocardial SPECT was high, and 201Tl myocardial SPECT is a useful examination to detect the change of myocardial damage in DMD.

Adolescent↗

PubMedDate not supplied

Adenylosuccinase in human muscular dystrophy.

The level of adenylosuccinase was measured in muscle from patients with Duchenne and other major forms of progressive muscular dystrophies and certain related neuromuscular diseases. The activity was found to be unaltered in all diseases that were examined.

Adenylosuccinate Lyase↗

PubMed1982

Therapeutic trial with protease inhibitor (leupeptin) in chicken muscular dystrophy. A histologic and histochemical study.

For the purpose of observing the therapeutic benefit of protease inhibitors for progressive muscular dystrophy, a large quantity of doses of leupeptin of 10 mg/kg/day and 50 mg/kg/day were administered i.p. to male chickens afflicted with hereditary muscular dystrophy (line 413) for 4 months starting on the 7th day ex ovo. No clinical improvement was identified in physical ability as a result of the examination by flip test, and creatine kinase (CK) values. The number of necrotic fibers in the pectoralis superficialis (PS) muscle which is known to be preferentially damaged in dystrophic chicken, did not decrease significantly in the birds treated with 10 mg leupeptin/kg/day (number of necrotic fibers; 47.7/mm2) and 50 mg/kg/day (46.4/mm2) as compared to that of the untreated ones (43.2/mm2). A morphometric analysis of fiber diameter distribution also showed no statistical difference between the treated and untreated birds. In the second group, 10 mg leupeptin/kg and a combination of leupeptin and bestatin of 10 mg/kg each were injected directly into the left lower half of the PS muscle three times a week for 4 months. Necrotic fibers were still present in the injected site, remote area of the left upper PS muscle treated with leupeptin (52.7/mm2), leupeptin and bestatin (52.2/mm2), and contralateral right upper PS muscle (41.6 and 53.5/mm2, respectively). The number of necrotic fibers in treated muscles was again not significantly different from that in untreated dystrophic ones (39.6/mm2). In fiber diameter analysis, no statistical difference was recognized between the treated and untreated dystrophic muscles.

Aminopeptidases↗

PubMed1989

Cytofluorometric determination of nuclear DNA in heart muscles of patients with muscular dystrophy.

The degree of DNA-polyploidy of cardiac muscle cells was investigated by cytofluorometry in 4 cases of progressive muscular dystrophy (DMP) and 2 cases of myotonic dystrophy (DM), and the results were compared with those for non-dystrophic hearts of normal or increased weight. The heart muscle cells from all patients with these forms of dystrophy showed marked nuclear DNA hyperploidy reaching 16c, irrespective of cardiac hypertrophy or atrophy. In the non-dystrophic group, DNA hypertrophy corresponding to that of dystrophy was only detected in cases of marked cardiac hypertrophy exceeding a weight of 400 g. The wasting of the respiratory musculature, deformity of the thorax and cardiac muscular atrophy appeared to be the principal factors causing DNA polyploidy in patients with muscular dystrophy.

Adolescent↗

PubMed1986

Familial lethal cardiomyopathy with mental retardation and scapuloperoneal muscular dystrophy.

A family is described with a neuromuscular disorder characterised by possible X-linked recessive inheritance, a benign, slowly progressive muscular dystrophy with predominant humeroperoneal distribution and lack of contractures or pseudohypertrophy, central nervous system involvement, myopia and lethal cardiomyopathy. The possibility of cardiac transplant as life-saving therapy is suggested.

Adolescent↗

PubMedDate not supplied

[Motor development in children with muscular dystrophy of the Duchenne type].

For determination of the age of onset and the age of immobilization in Duchenne's progressive muscular dystrophy the motor development was studied in 129 affected children. It was demonstrated that motor development was delayed and abnormal in 58% of the cases. On the average the affected children started to walk in the 19th month of life. According to the history data in 83% of the cases the age of onset of the disease was 1 year; in 10% of the cases the onset was placed before and in 7% after the 5th year of life. It was observed that earlier age of onset was not associated with a more rapid development of the disease and independently of the onset the age of immobilization was about 10 years. The results of investigation were compared with reports in the literature.

Age Factors↗

PubMed1983

Severe childhood muscular dystrophy affecting both sexes and frequent in Tunisia.

The authors reported a large study of 93 children presenting a severe form of progressive muscular dystrophy. The first clinical symptoms were noticed between 3 to 12 years. The atrophy affects, predominantly, the girdle and truncal muscles. The hypertrophy of the calves is almost consistent. The progression of the disease is severe, often like that the Duchenne type. In most of the cases, inability to walk occurs between 10 and 20 years. The serum creatine kinase activity is markedly high in the first stages of the disease. There is a necrotic regenerative pattern at muscle biopsy, associated with a marked type 1 predominance. The disease appears to be inherited as an autosomal recessive trait, with equal distribution among the two sexes. There is a marked variability in the intensity of symptoms and in the severity of the course of the disease from one sibling to another, and from one family to another. This disease is frequent in Tunisia and seems to be related to the high degree of consanguinity in this country.

Adolescent↗