Clinical-Diagnostic Features of Duchenne Muscular Dystrophy in Children
Clinical-Diagnostic Features of Duchenne Muscular Dystrophy in Children
Clinical-Diagnostic Features of Duchenne Muscular Dystrophy in Children
INTERNATIONAL
JOURNAL
OF BIOMEDICINE
PROBLEMS OF PEDIATRICS
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 7.80.48 years. The mean age at onset
was 4.30.36 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.
Introduction
Among the different types of Muscular Dystrophies
(MDs), Duchenne MD, Emery-Dreifuss MD and limb-girdle
muscular dystrophy or Erbs MD are diagnosed most often
in children [1,2]. Duchenne Muscular Dystrophy (DMD) is
a severe, progressive disease that affects about 1 out of every
5,000 male infants[3,4]; this is the most destructive of all
muscular dystrophies, which worsens rapidly [5].
DMD is caused by mutations in the dystrophin gene,
which is located on the X chromosome. Due to the pattern of
inheritance of the disease, only boys are affected, not girls.
Therefore, the sons of females who are carriers of the disease
(women with a defective gene but who express no symptoms
themselves) each have a 50% chance of having the disease.
The daughters each have a 50% chance of being carriers [6,7].
Despite the description of DMD being known almost
a century ago, the pathogenesis, diagnosis and treatment of
this disease are still unresolved [3,8]. DMD is a progressive
disease, which eventually affects all the voluntary muscles
and involves the heart and breathing muscles in the later
stages. While the life expectancy is currently estimated
*Corresponding author: Umida Omonova. Tashkent Medical
Pediatric Institute. Tashkent, Uzbekistan.
E-mail: [email protected]
measurement of the muscle response (M-wave) and the lateevoked responses. Statistical analysis was performed using
the statistical software Statistica.
267
Figure 1.
Skeletal deformities among children with DMD
268
Figure 2.
Parameters of serum enzyme activity
Conclusion
Thus, the diagnosis of DMD is a significant challenge
that requires the use of special algorithms. Currently, the
diagnosis of DMD is based on the data of clinical-genealogical
anamnesis, clinical symptoms, as well as the results of
electromyography, genetic tests, muscle biopsy and serum
CPK-MM. Genetic counseling is advised if there is a family
history of the disorder. DMD can be detected with about 95%
accuracy by genetic studies performed during pregnancy.
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