Clinical-genetic particularities of progressive muscular dystrophies in children
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2021-11-05 09:46
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616.74-007.17-053.2:575.224.2 (1)
Patologia organelor de locomoţie. Sistemul osos şi locomotor (300)
Genetică generală. Citogenetică generală (283)
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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. Ediția 11, 15-16 iunie 2021, Chişinău. Chișinău, Republica Moldova: Centrul Editorial-Poligrafic al Universităţii de Stat din Moldova, 2021, p. 62. ISBN 978-9975-933-56-8.
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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"
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.