ABSTRACT
Patients with Duchenne muscular dystrophy were analyzed using the method of polymerase chain reaction in order to reveal deletions in the dystrophin gene. Deletions of different lengths and locations were detected in 28 of 78 ill boys. The highest number of deletions was detected in the 3'-end of the gene (the 45-50th exons).
Subject(s)
Chromosome Deletion , Muscular Dystrophies/genetics , Adolescent , Child , Child, Preschool , DNA Primers , Dystrophin/genetics , Electrophoresis, Polyacrylamide Gel , Exons/genetics , Humans , Male , Molecular Sequence Data , Muscular Dystrophies/diagnosis , Polymerase Chain Reaction/methodsABSTRACT
Osteochin (Quinoin, Hungary) efficacy was studied in the treatment of 20 patients with Duchenne's progressive myodystrophy. The drug was administered in a dose of 200 mg a day for a month. A favorable effect of such therapy was observed in all the patients. Osteochin was found to have a correcting effect on Ca-regulating hormone function and to promote stabilization of the myodystrophic process.
Subject(s)
Calcium Channel Blockers/therapeutic use , Muscular Dystrophies/drug therapy , 24,25-Dihydroxyvitamin D 3/blood , Drug Evaluation , Humans , Locomotion/drug effects , Muscular Dystrophies/blood , Muscular Dystrophies/physiopathology , Parathyroid Hormone/blood , TabletsABSTRACT
The authors describe a case of a benign variety of progressive Duchenne type muscular dystrophy in a 8-year-old short-stature boy. Provide the electromyographic and electroneuromyographic data, measurements of the growth hormone in blood serum and osseous age. Make suggestions about coupled inheritance of progressive Duchenne type muscular dystrophy and short stature . The latter one is likely to be attended by a decrease of anabolic processes, which may determine a more benign course of the myodystrophic process.
Subject(s)
Dwarfism/complications , Muscular Dystrophies/diagnosis , Child , Dwarfism/genetics , Humans , Male , Muscular Dystrophies/etiology , Muscular Dystrophies/genetics , Pedigree , Severity of Illness IndexABSTRACT
The article analyzes the questions of polymorphism of clinical signs of Huntington chorea as investigated in an unique focus of the disease in Shamkhor region of Azerbaijan SSR. Possible determinants of the variability of the spectrum of clinical signs in different members of a family (age of onset, course and rate of development of the disease as assessed by electroneuromyographic investigation) are discussed.
Subject(s)
Huntington Disease/epidemiology , Adult , Azerbaijan/epidemiology , Child , Electromyography , Female , Humans , Huntington Disease/diagnosis , Huntington Disease/genetics , Male , Middle Aged , Pedigree , Phenotype , Polymorphism, Genetic , Space-Time ClusteringABSTRACT
Therapeutic effect of sinestrol was investigated in 15 patients with progressive muscular dystrophy of Duchenne (PMDD) aged 7 to 10 years, at stage II of the disease. The drug was given orally 1 mg twice a day for 3 weeks. Control group consisted of 14 patients with PMDD aged 7 to 9 years. By the end of the course a several relief of motor constraint was noted in 10 patients with functional tests improved, tendon reflexes increased. The results of clinico-electromyographic investigation performed 6 months after the sinestrol withdrawal evidenced progressive course of the disease, though its rate was significantly lower in sinestrol-treated group. The treatment did not produce considerable changes in the baseline hormonal profile (gonadotropins, prolactin, sexual steroids).
Subject(s)
Dienestrol/administration & dosage , Muscle Contraction/drug effects , Muscular Dystrophies/drug therapy , Phenols/administration & dosage , Administration, Oral , Child , Clinical Trials as Topic , Drug Administration Schedule , Female , Humans , Male , Muscular Dystrophies/physiopathology , Time FactorsABSTRACT
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.
Subject(s)
Muscular Dystrophies/diagnosis , Adolescent , Adult , Age Factors , Child , Child, Preschool , Diagnosis, Differential , Diagnostic Errors , Humans , Muscle Hypotonia/diagnosis , Referral and ConsultationABSTRACT
The authors describe a combination of Duchenne muscular dystrophy and congenital ichthyosis in a 6.5-year-old boy. This is the first ever description appearing in the world literature. The authors discuss possible variants of mutation (either chromosomal aberration or two independent gene mutations in chromosome 21).
Subject(s)
Chromosome Deletion , Chromosomes, Human, 21-22 and Y/ultrastructure , Genes , Ichthyosis/genetics , Muscular Dystrophies/genetics , Mutation , X Chromosome/ultrastructure , Child , Chromosome Aberrations , Genetic Linkage , Humans , Ichthyosis/congenital , Ichthyosis/physiopathology , Karyotyping , Male , Muscular Dystrophies/physiopathologyABSTRACT
The authors describe two isolated cases of poorly studied late progressive recessive X-linked proximal spinal and bulbar amyotrophy characterized by a relatively benign course. The cases are analyzed in the light of modern literature data.
Subject(s)
Muscular Atrophy/genetics , Age Factors , Arm , Atrophy , Genetic Linkage , Humans , Leg , Male , Middle Aged , Muscular Atrophy/classification , Tongue/pathology , X ChromosomeABSTRACT
Using highly purified antibodies to cerebral alpha 2-globulin (alpha 2-B) the authors have developed a procedure for enzyme immunoassay of this antigen in biological fluids. Blood sera of 15 children with Tourette's syndrome were examined by this method. The levels of alpha 2-B and the clinical picture of the disease were found to correlate, which makes it possible to use an assay of alpha 2-B as a laboratory test for the diagnosis of Tourette's syndrome and for the monitoring of its treatment.
Subject(s)
Brain Chemistry , Tourette Syndrome/diagnosis , alpha-Macroglobulins/analysis , Adolescent , Adult , Aged , Child , Child, Preschool , Female , Humans , Immunoenzyme Techniques , Male , Middle Aged , Tourette Syndrome/bloodSubject(s)
Autonomic Nervous System Diseases/diagnosis , Neuromuscular Diseases/diagnosis , Adolescent , Adult , Animals , Ciguatera Poisoning , Electrodiagnosis , Female , Fishes, Poisonous , Humans , Male , Mental Disorders/complications , Muscles/physiopathology , Peripheral Nerves/physiopathology , Reflex, Abnormal , SyndromeABSTRACT
Clinical and electroneurographic investigations of 22 cases of hereditary areflectory dysstasia (Roussy-Levy's syndrome). 20 cases of Charcot-Marie's neural amyotrophy and 8 cases of Friedreich's familial ataxia were carried out. In the patients with Roussy-Levy's syndrome, the speed of the impulse conduction along the peripheral nerves of the extremities, as well as the amplitudes of evoked potentials were lowered to the greatest extent: this was an evidence of nosological independence of the disease.
Subject(s)
Movement Disorders/genetics , Reflex, Abnormal/genetics , Adolescent , Adult , Charcot-Marie-Tooth Disease/diagnosis , Child , Child, Preschool , Diagnosis, Differential , Electrodiagnosis , Friedreich Ataxia/diagnosis , Gait , Humans , Middle Aged , Neural Conduction , Peripheral Nerves/physiopathology , SyndromeABSTRACT
An electroneuromyographic examination of 132 patients with pseudohypertrophic and myosclerotic forms of myodystrophies, collagenoses, mucopolysaccharidoses, Marfan's disease, and Chernogubov-Ehlers-Danlos' disease was carried out. A relationship between the duration of the M-response potential and the state of the interstitial connective tissue of the skeletal muscles was revealed. This duration appeared to be longer in cases of proliferation, sclerosis, and fibrosis of the interstitial tissue, and shorter in cases of a deficiency of the collagen fibres and increase of their elasticity.
Subject(s)
Connective Tissue Diseases/diagnosis , Electromyography , Neuromuscular Diseases/diagnosis , Adolescent , Adult , Aged , Child , Child, Preschool , Collagen Diseases/diagnosis , Humans , Hypertrophy/physiopathology , Infant , Middle Aged , Muscles/physiopathology , Muscular Dystrophies/diagnosis , Sclerosis , Synaptic Transmission , SyndromeABSTRACT
Clinico-electroneuromyographic examinations of 108 children with the "flabby child" syndrome of various genesis were carried out. A classification of diseases accompanied with muscular hypotonicity in early childhood is suggested. The electroneuromyographic examinations revealed an increase of the speed of impulse transmission along the peripheral nerves, this transmission being the most pronounced in the first two years of the life, and levelled down by the age of 3 to 7 years.
Subject(s)
Muscle Hypotonia/congenital , Child , Child, Preschool , Electrodiagnosis , Humans , Infant , Infant, Newborn , Median Nerve/physiopathology , Muscle Hypotonia/diagnosis , Muscle Hypotonia/etiology , Neural Conduction , Syndrome , Tibial Nerve/physiopathologyABSTRACT
Electroneuromyographical studies were performed in 39 patients with atactic-spastic and mixed forms of disseminated sclerosis. The examinations detected a drop in the velocity of impulse conduction along the tibial nerve in spastic forms and an increase in the velocity of impulse conduction along the medium nerve in atactic forms. The most pronounced were changes in velocity of afferent conduction. The data obtained were compared with electroneuromyographical studies in atactic and spastic syndromes of different origin.
