Clinical-electroneuromyographic characteristics of the patients with duchenne/becker's progressive muscular dystrophy in Uzbekistan

2021 ◽  
Vol 7 (1) ◽  
pp. 43-45
Author(s):  
Madjidova Yo.N. ◽  
Omonova U.T.
Keyword(s):  
Muscular Dystrophy ◽  
Research Methods ◽  
Clinical Manifestations ◽  
Neuromuscular Diseases ◽  
Progressive Muscular Dystrophy ◽  
Mother And Child ◽  
Republican Center

We examined 106 patients with a diagnosis of Duchenne / Becker progressive muscular dystrophy (PMD), selected in the group of those who applied to the Republican Center for Screening of Mother and Child with various hereditary neuromuscular diseases. Based on the analysis of pedigrees, clinical manifestations and paraclinical research methods, the features of the clinical polymorphism of this disease in Uzbekistan were studied.

RESULTS OF MEDICO-GENETIC STUDY OF PATIENTS WITH DUCHENNE/BECKER PROGRESSIVE MUSCULAR DYSTROPHIES IN UZBEKISTAN

2014 ◽  
Vol 7 (2) ◽  
Author(s):  
Umida Tulkinovna Omonova
Keyword(s):  
Differential Diagnosis ◽  
Genetic Polymorphism ◽  
Muscular Dystrophy ◽  
Genetic Study ◽  
Neuromuscular Diseases ◽  
National Database ◽  
Muscular Dystrophies ◽  
Mother And Child ◽  
Male Patients ◽  
Republican Center

The purpose of study was to analyze clinical and genetic polymorphism of Duchenne/Becker progressive muscular dystrophies among patients with neuromuscular diseases in Uzbekistan. 106 male patients with progressive pseudohypertrophic forms of muscular dystrophy were retrospectively and prospectively analyzed in the period from 2004 till 2014: 93 patients with Duchenne PMD aged from 3 years to 18 years and 13 patients with Becker PMD aged from 10 years to 25 years, who had been examined in the medico-genetic consulting department of the Republican Center “Mother and Child Screening” of Tashkent city. Comprehensive clinical, neurophysiological, biochemical and genetic study of patients as the integral part in the differential diagnosis of Duchenne/Becker progressive muscular dystrophies allows creating the national database on D/B PMD to prevent the birth of children in families burdened by this disease.

Differential diagnosis of Duchenne muscular dystrophy

2021 ◽  
Vol 2 (3) ◽  
pp. 159-166
Author(s):  
Alexey L. Kurenkov ◽  
Lyudmila M. Kuzenkova ◽  
Lale A. Pak ◽  
Bella I. Bursagova ◽  
Tatyana V. Podkletnova ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Muscle Damage ◽  
Genetic Diagnosis ◽  
Clinical Manifestations ◽  
Neuromuscular Diseases ◽  
Muscular Dystrophies ◽  
Juvenile Form ◽  
Pathogenic Variants

Duchenne muscular dystrophy (DMD) is a disease with an X-linked recessive type of inheritance, belonging to a group of disorders with primary muscle damage, caused by pathogenic variants in the DMD gene and associated with dysfunction of the dystrophin protein. Since DMD is manifested by the gradual development of progressive, mainly proximal muscle weakness, the differential diagnosis is primarily carried out in the group of diseases with muscle damage - myopathies. Among these diseases, the leading candidates for differential diagnosis are hereditary myopathies (limb-girdle muscular dystrophies, facioscapulohumeral dystrophy, congenital muscular dystrophies, glycogenoses - the most common juvenile form of glycogenosis type II (Pompe disease)) and, much less often, congenital myopathies and other conditions of neuromuscular diseases). When conducting a differential diagnosis in a child with suspected DMD, the age of the onset of the disease, early initial clinical manifestations and the development of symptoms as they grow, genealogical analysis, laboratory tests (the level of creatine kinase, aspartate aminotransferase, alanine aminotransferase in blood serum), instrumental (electromyography, magnetic resonance imaging of the brain and muscles) and molecular genetics (polymerase chain reaction, multiplex ligation-dependent probe amplification, next-generation sequencing, Sanger sequencing, etc.) of studies, and in some cases, muscle biopsy data. Knowledge of the nuances of the differential diagnosis allows establishing a genetic diagnosis of DMD as early as possible, which is extremely important for the formation of the prognosis of the disease and the implementation of all available treatment methods, including pathogenetic therapy, and is also necessary for medical and genetic counselling of families with DMD patients.

Serum muscle-specific enolase in progressive muscular dystrophy and other neuromuscular diseases

1984 ◽  
Vol 63 (3) ◽  
pp. 345-352 ◽  
Author(s):  
Kenji Mokuno ◽  
Shigeo Riku ◽  
Yukihiko Matsuoka ◽  
Itsuro Sobue ◽  
Kanefusa Kato
Keyword(s):  
Muscular Dystrophy ◽  
Neuromuscular Diseases ◽  
Progressive Muscular Dystrophy

scholarly journals Differential diagnosis of hypokinetic disorders in hereditary neuromuscular diseases

1997 ◽  
Vol XXIX (1-2) ◽  
pp. 81-83
Author(s):  
L. A. Saikova ◽  
V. D. Kosachev ◽  
V. G. Pustozerov ◽  
Т. M. Alekseeva ◽  
Т. N. Vasilyeva ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Research Methods ◽  
Clinical Manifestations ◽  
Neuromuscular Diseases ◽  
Additional Research ◽  
Congenital Myopathies

For determination criteria of differential diagnosis analysis of clinical manifestations and indices of additional research methods (EMG, ENMY, biochemical, histomorphological) of paroxysmal hypokinetic conditions in myoplegia, myopathic syndromes, glycogenosis and Mc Ardl syndrome in polymyositis, Eulenburg-Lewandowsky paramyotoxia, remittent form of neural amyotrophy, some forms of congenital myopathies was carried out.

Clinical manifestations and diagnosis of keratoconus. Treatment of iatrogenic keratoconus

2020 ◽  
pp. 37-42
Author(s):  
Fedor Ermolyuk
Keyword(s):  
Research Methods ◽  
Contact Lenses ◽  
Correct Diagnosis ◽  
Clinical Manifestations ◽  
Refractive Errors ◽  
Dry Eyes ◽  
Advanced Stages ◽  
Dystrophic Disease ◽  
Iatrogenic Origin ◽  
Binocular Diplopia

Keratoconus is a dystrophic disease of the cornea, when it is thinned with the formation of a conus-like protrusion (protrusion of the cornea). This disease belongs to the group of keratectasia, it has a multifactorial nature and occurs in approximately 25 % of all corneal pathologies. The disease can be either primary, which is based on dystrophic changes in the cornea, or secondary, which develops against the background of prenatal keratitis. Keratoconus of iatrogenic origin, which develops as a result of refractive eye microsurgery, has become widespread during the last 20 years. Most often primary keratoconus manifests during puberty, progresses to 30–40 years, after which its development slows down. An early clinical manifestation of this corneal pathology is a progressive decrease in visual acuity, development of double vision (binocular diplopia) with the development of a strong headache against this background. Monocular polyopia — images and symbols with multiple contours — develops subsequently. Severe dry eyes, itching, photophobia appear in advanced stages. Diagnosis of keratoconus in some cases can be a significant difficulty, since the use of conventional research methods only allow to suspect refractive errors in the form of myopia or astigmatism. It is necessary to take into account the impossibility of correcting visual impairment using conventional methods — glasses or contact lenses — to make correct diagnosis. As a rule, diagnosis of keratoconus requires use of expanded spectrum of instrumental research methods.

scholarly journals Nutraceutical Screening in a Zebrafish Model of Muscular Dystrophy: Gingerol as a Possible Food Aid

Nutrients ◽  
2021 ◽  
Vol 13 (3) ◽  
pp. 998
Author(s):  
Rosario Licitra ◽  
Maria Marchese ◽  
Letizia Brogi ◽  
Baldassare Fronte ◽  
Letizia Pitto ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Muscular Dystrophy ◽  
Genomic Medicine ◽  
Neuromuscular Diseases ◽  
Dystrophin Gene ◽  
Neuromuscular Disorder ◽  
Heme Oxygenase 1 ◽  
Zebrafish Model ◽  
Screening Study

Duchenne muscular dystrophy (DMD), caused by mutations in the dystrophin gene, is an inherited neuromuscular disorder that causes loss of muscle mass and motor skills. In the era of genomic medicine, there is still no known cure for DMD. In clinical practice, there is a growing awareness of the possible importance of nutrition in neuromuscular diseases. This is mostly the result of patients’ or caregivers’ empirical reports of how active substances derived from food have led to improved muscle strength and, thus, better quality of life. In this report, we investigate several nutraceutical principles in the sapje strain of zebrafish, a validated model of DMD, in order to identify possible natural products that, if supplemented in the diet, might improve the quality of life of DMD patients. Gingerol, a constituent of fresh ginger, statistically increased the locomotion of mutant larvae and upregulated the expression of heme oxygenase 1, a target gene for therapy aimed at improving dystrophic symptoms. Although three other compounds showed a partial positive effect on locomotor and muscle structure phenotypes, our nutraceutical screening study lent preliminary support to the efficacy and safety only of gingerol. Gingerol could easily be proposed as a dietary supplement in DMD.

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