Clinical-genetic particularities of progressive muscular dystrophies in children
Închide
Articolul precedent
Articolul urmator
567 13
Ultima descărcare din IBN:
2023-11-21 21:32
Căutarea după subiecte
similare conform CZU
616.74-007.17-053.2:575.224.2 (1)
Patologia organelor de locomoţie. Sistemul osos şi locomotor (462)
Genetică generală. Citogenetică generală (426)
SM ISO690:2012
SPRINCEAN, Mariana, HADJIU, Svetlana, RACOVIȚĂ, Stela, BURAC, Nadejda, SAKARA, Viktoria K., LUPUŞOR, Nadejda, GRÎU, Corina, CUZNETZ, Ludmila, FEGHIU, Ludmila, HALABUDENCO, Elena, CĂLCÎI, Cornelia, REVENCO, Ninel. Clinical-genetic particularities of progressive muscular dystrophies in children. In: International Congress of Geneticists and Breeders from the Republic of Moldova, Ed. 11, 15-16 iunie 2021, Chişinău. Chișinău, Republica Moldova: Centrul Editorial-Poligrafic al Universităţii de Stat din Moldova, 2021, Ediția 11, p. 62. ISBN 978-9975-933-56-8. DOI: https://doi.org/10.53040/cga11.2021.044
EXPORT metadate:
Google Scholar
Crossref
CERIF

DataCite
Dublin Core
International Congress of Geneticists and Breeders from the Republic of Moldova
Ediția 11, 2021
Congresul "International Congress of Geneticists and Breeders from the Republic of Moldova"
11, Chişinău, Moldova, 15-16 iunie 2021

Clinical-genetic particularities of progressive muscular dystrophies in children

DOI: https://doi.org/10.53040/cga11.2021.044
CZU: 616.74-007.17-053.2:575.224.2

Pag. 62-62

Sprincean Mariana12, Hadjiu Svetlana12, Racoviță Stela12, Burac Nadejda1, Sakara Viktoria K.2, Lupuşor Nadejda1, Grîu Corina1, Cuznetz Ludmila12, Feghiu Ludmila13, Halabudenco Elena2, Călcîi Cornelia12, Revenco Ninel12
 
1 ”Nicolae Testemițanu” State University of Medicine and Pharmacy,
2 Institute of Mother and Child,
3 National Epileptology Center of the Republic of Moldova
 
Disponibil în IBN: 16 iunie 2021


Rezumat

Progressive Muscular Dystrophies (PMD) is a group of genetic pathologies, with different type of hereditary transmission, manifested by progressive muscular weakness, motor disorders and impaired skeletal, cardiac and respiratory systems with a different degree of severity of the disease. Scope of the presenting work: The elucidation of the clinical-neurological aspects of Duchenne progressive muscular dystrophy (DMD) and limb-girdle muscular dystrophy and presentation of two clinical cases. The described clinical cases of boys with DMD and limb-girdle PMD allowed to highlight the variety of clinical characteristics of the disease. Clinical case 1: Patient A. D. Age 6 years. Neurologic status: Abolished tendon reflexes, muscular force in the limbs 3 points. “Wadding gait”. Was mentioned pseudohypertrophy of gastrocnemian muscles. Lumbar lordosis. Clinical diagnosis: Primary myopathy. Duchenne progressive muscular dystrophy. Severe motor disorders. Laboratory investigations: ALT – 294 U/l (1-49 U/l); AST – 201 U/l (146 U/l); Creatine kinase (CK) MB – 833 U/l, (0 – 25 U/l); Total creatine kinase – 14740 U/l (24 – 195 U/l); Lactate dehydrogenase (LDH) – 1934 (200 – 400 U/l). By molecular genetic DNA analysis was detected deletion of exons 45 – 52 of dystrophin gene. Electromyoneurography (ENMG): The amplitudes of the muscles potentials of action are reduced, blocks of conduction are present. Clinical case 2: Patient M. A., 17 years old. Neurologic examination: Tendon reflexes are abolished, muscular force in upper limbs is 3 p, in lower limbs 4 p. The gait is myopathic. There is atrophy of thigh muscles. Biochimical testing: Total CK is 486 U/l, CK MB is 36 U/l, LDH is 358 U/l. ENMG: Bilateral increasing of F latency on the level of fibers of posterior tibial nerve, accentuated in left. ECG: Cardiac rhythm is 86 BPM, axis shifted to right, hypertrophy of right atrium. Clinical diagnosis: Limb-girdle progressive muscular dystrophy. Motor disorders, severe motor deficit. Cardiomyopathy. PMD represents a group of disorders with many phenotypic characteristics, which are difficult to diagnose in the early stages of the disease.

Google Scholar Export

<meta name="citation_title" content="Clinical-genetic particularities of progressive muscular dystrophies in children">
<meta name="citation_author" content="Sprincean Mariana">
<meta name="citation_author" content="Hadjiu Svetlana">
<meta name="citation_author" content="Racoviță Stela">
<meta name="citation_author" content="Burac Nadejda">
<meta name="citation_author" content="Sakara Viktoria K.">
<meta name="citation_author" content="Lupuşor Nadejda">
<meta name="citation_author" content="Grîu Corina">
<meta name="citation_author" content="Cuznetz Ludmila">
<meta name="citation_author" content="Feghiu Ludmila">
<meta name="citation_author" content="Halabudenco Elena">
<meta name="citation_author" content="Călcîi Cornelia">
<meta name="citation_author" content="Revenco Ninel">
<meta name="citation_publication_date" content="2021">
<meta name="citation_collection_title" content="International Congress of Geneticists and Breeders from the Republic of Moldova">
<meta name="citation_volume" content="Ediția 11">
<meta name="citation_firstpage" content="62">
<meta name="citation_lastpage" content="62">
<meta name="citation_pdf_url" content="https://ibn.idsi.md/sites/default/files/imag_file/p%2062.pdf">