Clinical-Diagnostic Features of Duchenne Muscular Dystrophy in Children

Umida T. Omonova

Tashkent Medical Pediatric Institute; Tashkent, Uzbekistan

*Corresponding author: Umida Omonova. Tashkent Medical Pediatric Institute. Tashkent, Uzbekistan. E-mail:  mbshakur@mail.ru

Published: December 25, 2013 

Abstract: 

Duchenne Muscular Dystrophy (DMD) is a severe, progressive disease that affects about 1 out of every 5,000 male infants; this is the most destructive of all muscular dystrophies, which worsens rapidly. In this study, we performed a clinical analysis of 37 children with DMD. They ranged in age from 3 to 15 years, mean age being 7.8±0.48 years. The mean age at onset was 4.3±0.36 years and ranged from birth to 8 years. The biochemical examination included the determination of the serum levels of the following enzymes, AST, ALT, CPK-MM, and LDH. A genealogical analysis was conducted among 240 first-degree relatives of children with DMD. Electroneuromyography examination included registration of the biopotentials of the hand and foot muscles, measurement of the muscle response (M-wave) and the late-evoked responses. The clinical-diagnostic features of DMD in children were characterized.

Keywords: 
Duchenne muscular dystrophy; children; muscle atrophy; electroneuromyography.
References: 

1.Bushby K, Finkel R, Birnkrant DJ, Case LE, Clemens PR, Cripe L, et al. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management. Lancet Neurol 2010; 9(1):77-93.

2.Snow WM, Anderson JE, Jakobson LS. Neuropsychological and neurobehavioral functioning in Duchenne muscular dystrophy:a review. Neurosci Biobehav Rev 2013; 37(5):743-52.

3.Dadali EL, Malmberg SA, Podagova EV, Polyakov AV, Petruhin AS. Clinical manifestations of progressive Duchenne muscular dystrophy in the heterozygous carriers of mutations in the dystrophin gene. Russ Med J–2007; 3:18-21. [Article in Russian].

4.Podagova EV, Malmberg SA, Dadali EL. Pseudohypertrophic  progressive muscular dystrophy: diagnostic algorithms. XIV Russian National Congress "Man and Medicine." Moscow 2007. [Article in Russian].

5.Shaymurzin MR, Yevtushenko SK. New modern technology in the treatment of neuro-muscular diseases to slow down their progression. Vestn Fiziol Kur 2010; 6:40-41. [Article in Russian].

6.Yevtushenko SK, Shaymurzin MR, Yevtushenko LF. Medical and non-pharmacological treatment of cardiomyopathy and pneumopathy in progressive neuromuscular diseases in children. Tauride Med Biol Bull 2009; 12(2):46. [Article in Russian].

7.Andersen SP, Sveen ML, Hansen RS, Madsen KL, Hansen JB, Madsen M, et al. Creatine kinase response to high-intensity aerobic exercise in adult-onset muscular dystrophy. Muscle Nerve 2013; 20:1-5. [Epub ahead of print]

8.Dorobek M, Szmidt-Sałkowska E, Rowińska-Marcińska K, Gaweł M, Hausmanowa-Petrusewicz I. Relationships between clinical data and quantitative EMG findings in facioscapulohumeral muscular dystrophy. Neurol Neurochir Pol 2013; 47(1):8-17.

The fully formatted PDF version is available.

Download Article

Int J Biomed. 2013; 3(4):266-268. © 2013 International Medical Research and Development Corporation. All rights reserved.