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Results for “PROGRESSIVE MUSCULAR DYSTROPHY”

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PubMed1977

[Changes in the activity of succinate dehydrogenase and lactate dehydrogenase in the muscles of patients with progressive muscular dystrophy].

Histochemical investigation of 32 biopsy specimens of the muscular tissue taken in patients with Erb's myopathy and 15 bioptic materials from patients with Charcot--Marie--Tooth's amyotrophy was carried out. Characteristics of distribution of enzymes (succinate dehydrogenase, lactate dehydrogenase) in the muscular tissue of the patients referred to above are presented. A quantitative evaluation of the activity of enzymes was made by the method of count of granules of diphormazan with subsequent treatment of data by the statistical variation method.

Histocytochemistry↗
PubMed2005

The biological function of insulin-like growth factor-I in myogenesis and its therapeutic effect on muscular dystrophy.

In progressive muscular dystrophy, such as Duchenne muscular dystrophy, muscles show the pathological changes characterized by hypertrophy at the early phase, while atrophic changes are seen with aging. As an experimental model for muscle hypertrophy and atrophy, insulin-like growth factor-1 (IGF-1) signaling via the activation of PI3K/Akt pathway has been well characterized. IGF-1 is also highlighted as a therapeutic agent as it has been shown to improve phenotype of dystrophic animals. In this review, the functions of IGF-1 on mitogenic proliferation and myogenic differentiation in vitro, muscle hypertrophy in vivo are discussed, as well as its possible utility for molecular therapy on muscular dystrophies.

Animals↗
PubMedDate not supplied

[Mitochondrial monoamine oxidase in progressive Duchenne muscular dystrophy].

In children with progressive Duchenne muscular dystrophy distinct impairment in activity, of mitochondrial monoamine oxidase from skeletal muscles correlated with the step of myodystrophic process. The decrease in activity of monoamine oxidase in mitochondria of skeletal muscles, occurred with simultaneous increase in intensity of amines deamination in a medium surrounding the organelles, might de due to "leakage" of the enzyme as a result of deterioration of mitochondrial membranes permeability developed in the disease.

Adolescent↗
PubMed1999

A diagnostic fluorescent marker kit for six limb girdle muscular dystrophies.

The autosomal progressive muscular dystrophies which are grouped together under the term limb girdle muscular dystrophies (LGMD) are diseases characterized by a progressive impairment of the proximal limb muscles and myopathic changes on electromyogram and muscle biopsy. Eight independent purely recessive genetic entities have been recognized in this group of diseases by genetic localization or causative gene identification. We have developed fluorescent genetic markers bracketing six of these loci (LGMD2A-LGMD2F). The marker loci were genotyped in 96 LGMD2 families leading to genetic definition of 25 of them either with a high likelihood or with a suggested localization (7 LGMD2A, 5 LGMD2B, 4 LGMD2C, 4 LGMD2D, 2 LGMD2E and 3 LGMD2F). In addition, 18 families were excluded for all six tested loci; for 45 of the 53 remaining families at least one exclusion could be demonstrated. This kit, which makes the rapid genetic testing of LGMD2 families possible, may be useful in a diagnostic process.

Chromosome Mapping↗
PubMed1981

Histological and ultrastructural findings in the vocal muscles of patients suffering from muscular dystrophies.

Biopsy material from the vocal muscle of patients suffering from Steinert's muscular dystrophy, Duchenne's muscular dystrophy, oculopharyngeal progressive muscular dystrophy, and paraneoplastic myopathy was examined under the light and electron microscope. The histological findings were compatible with the muscular changes seen in the skeletal muscles of the extremities of the same patients. Slight differences in the severity of the pathologic process were noticed in correlation with the muscles of the extremities which were always more seriously affected than the vocal muscles. The ultrastructural study revealed a moderate to very permanent dilatation of the sarcotubular system, involving the T-tubules and the cisternae of the smooth endoplasmic reticulum as well. From the clinical point of view, the vocal muscle biopsy was beneficial to the patients suffering from Steinert's myotonic muscular dystrophy, whereas it did not affect the clinical condition of the others.

Biopsy↗
PubMed1981

Freeze fracture studies of human neuromuscular junctions. Membrane alterations observed in myasthenia gravis.

Freeze fracture replicas of neuromuscular junctions from normal human patients and those with facioscapulohumeral and limb girdle muscular dystrophies, progressive muscular atrophy, and myasthenia gravis were examined by stereoscopic electron microscopy. Endplates from most human patients closely resemble those of normal adult rats fixed by intravascular perfusion. However, endplates from patients with myasthenia gravis have clinically relevant alterations in postsynaptic membrane infrastructure, including decreased number of P-face particles and increased number of E-face particles in the crests of the junctional folds. Other junctional fold crests are narrowed or obliterated and are replaced by incompletely sealed membrane vesicles rich in intramembrane particles. Similar alterations are not produced in rat endplates by immersion fixation, exposure to low pH, brief hypoxia, prolonged or extreme hypothermia, prolonged or high frequency nerve stimulation, or by prolonged nerve quiescence. Rather, the destructive alterations observed in junctional fold membranes in myasthenia gravis endplates are correlated with decreased acetylcholine sensitivity and to removal of endplate acetylcholine receptors by immunologic processes.

Animals↗
PubMed1989

[Characteristics of the diagnosis of progressive Duchenne muscular dystrophy].

A total of 70 patients with Duchenne progressive muscular dystrophy (DPMD) aged 3 to 20 were enrolled in this study. Peculiarities of the diagnosis and diagnostic errors were shown at different stages of medical follow-up of the patients. A half of the patients had pediatrists and orthopedists as their first doctors. Upon the initial investigation, DPMD was diagnosed in about 1/3 of the patients. Retarded motor and psycholingual development were the first signs of the disease in 72.9% and 37.1% of the cases, respectively. Bones and cartilages were also frequently changed. To improve the early DPMD diagnosis it is essential that pediatrists child surgeons and ortopedists be largely informed about the clinical features of the disease.

Adolescent↗
PubMed1993

[A case of non-Fukuyama type congenital muscular dystrophy with progression in early adulthood, ocular involvement, and sensorineural deafness].

Congenital muscular dystrophy (CMD) is a concept applied to infants showing muscular weakness and hypotonia at birth, with myopathic changes which are histopathologically similar to those of muscular dystrophy. Patients with Fukuyama-type CMD (FCMD), characterized by progressive muscular dystrophy, mental retardation and occasionally, convulsions, are more frequently seen in Japan than those with non-Fukuyama type CMD (NFCMD). FCMD has been regarded as a distinct clinical and pathological entity, although the nosologic status of CMD is still controversial. A 24-year-old man had exhibited hypotonia and weakness at birth and delay in early development. During childhood, his muscular weakness improved, and he rode a bicycle and enjoyed skiing. However, his strength began to deteriorate at the age of 19 years. Neurological examination on admission revealed prominent muscular wasting and weakness, predominantly in the proximal limbs. He had ocular involvement (corneal opacity and slow saccades), sensorineural deafness, and a high-arched palate, saddle nose and funnel chest as anomalous conditions. Serum CK was moderately elevated and EMG showed myogenic patterns. A muscle biopsy specimen of the left biceps brachii was dystrophic, showing increased variation in fiber size with fibrous tissue proliferation, an increased number of centralized nuclei, fiber splitting and degenerating/regenerating fibers. Those findings were compatible with those seen in NFCMD. In Japan, only one patient with NFCMD who was followed to adulthood has been reported. This patient's symptoms progressed very slowly. The present patient's course of illness was stable during childhood but progressive in early adulthood. It suggests heterogeneous clinical expression of the disease.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗
PubMed1991

Duchenne muscular dystrophy.

Progress in understanding the role of dystrophin raises promising hopes for a treatment for Duchenne muscular dystrophy. In addition, great improvements have been made in the ability to diagnose this disease using simple molecular methods.

Calcium↗
PubMed1997

Surgical correction of blepharoptosis in oculopharyngeal muscular dystrophy.

Progressive, usually symmetric blepharoptosis with or without dysphagia appears in most instances in the fifth decade in oculopharyngeal muscular dystrophy (OPMD). We review our experience over 20 years of applying Beard's surgical guidelines for correction of ptosis to OPMD patients with satisfactory results. As the disease continues to progress, the rate of recurrence of ptosis among follow-up patients of a 9-year minimum period was 13%.

Aged↗