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Study Determining the Frequency of Duchenne Muscular Dystrophy and Late-onset Pompe Disease

2019-10-15 11:11:15 | BioPortfolio

Summary

This is a multicenter prospective non-drug screening study. The working period is 12 months. There is no research product to be followed or used in the study.

Demographic data, medical and family histories of the patients included in the study will be collected at the first admission. The following laboratory values of the patients will be collected:

- Alanine Transaminase (ALT)

- Aspartate Transaminase (AST)

- Gamma Glutamyl Transferase (GGT)

- Creatine Phosphokinase (CPK)

- In addition, physical examination information and Abdominal USG and Liver Biopsy Results, if any, will be collected. Following the above scans, enzyme analysis for late-onset Pompe disease in boys and girls and adolescents with high CPK levels and molecular genetic tests for Duchenne muscular dystrophy in boys and adolescents with high CPK levels will be performed.

Study Design

Conditions

Duchenne Muscular Dystrophy

Intervention

Laboratory Tests

Location

Adana City Hospital
Adana
Turkey

Status

Recruiting

Source

Turkish Society of Pediatric Gastroenterology, Hepatology and Nutrition

Results (where available)

View Results

Links

Published on BioPortfolio: 2019-10-15T11:11:15-0400

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PubMed Articles [6600 Associated PubMed Articles listed on BioPortfolio]

The NIH Toolbox for cognitive surveillance in Duchenne muscular dystrophy.

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Medical and Biotech [MESH] Definitions

A muscle protein localized in surface membranes which is the product of the Duchenne/Becker muscular dystrophy gene. Individuals with Duchenne muscular dystrophy usually lack dystrophin completely while those with Becker muscular dystrophy have dystrophin of an altered size. It shares features with other cytoskeletal proteins such as SPECTRIN and alpha-actinin but the precise function of dystrophin is not clear. One possible role might be to preserve the integrity and alignment of the plasma membrane to the myofibrils during muscle contraction and relaxation. MW 400 kDa.

A strain of mice arising from a spontaneous MUTATION (mdx) in inbred C57BL mice. This mutation is X chromosome-linked and produces viable homozygous animals that lack the muscle protein DYSTROPHIN, have high serum levels of muscle ENZYMES, and possess histological lesions similar to human MUSCULAR DYSTROPHY. The histological features, linkage, and map position of mdx make these mice a worthy animal model of DUCHENNE MUSCULAR DYSTROPHY.

An X-linked recessive muscle disease caused by an inability to synthesize DYSTROPHIN, which is involved with maintaining the integrity of the sarcolemma. Muscle fibers undergo a process that features degeneration and regeneration. Clinical manifestations include proximal weakness in the first few years of life, pseudohypertrophy, cardiomyopathy (see MYOCARDIAL DISEASES), and an increased incidence of impaired mentation. Becker muscular dystrophy is a closely related condition featuring a later onset of disease (usually adolescence) and a slowly progressive course. (Adams et al., Principles of Neurology, 6th ed, p1415)

MUSCULAR DYSTROPHY that occurs in VERTEBRATE animals.

A heterogenous group of inherited muscular dystrophy without the involvement of nervous system. The disease is characterized by MUSCULAR ATROPHY; MUSCLE WEAKNESS; CONTRACTURE of the elbows; ACHILLES TENDON; and posterior cervical muscles; with or without cardiac features. There are several INHERITANCE PATTERNS including X-linked (X CHROMOSOME), autosomal dominant, and autosomal recessive gene mutations.

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