E-ISSN 0976-2779 | ISSN 0975-8453
 

Review Article 


A Review of Clinical Data of Family Form of Myofibrillar Desmin Myopathy

VIACHESLAV YURIEVICH PAULS.

Abstract
Introduction: Desminopathy is a rare hereditary disease associated with a mutation in the DES gene, which is a type of myofibrillar myopathy. Damage to skeletal, cardiac, smooth muscles, as well as the diaphragm is possible with this disease. In clinical practice, desminopathy is a difficult diagnostic task.
Purpose of the study. Study of the dynamics of the clinical picture of myofibrillar myopathy with a mutation in the DES c.1021A> C (Thr341Pro) gene in a heterozygous state and analysis of the family tree.
Clinical description. A detailed analysis of the medical documentation of the patient’s family along the father’s side in the 6th generation with a case of desminopathy was performed. A family study in a total of more than 100 years is presented with a description of the dynamics of clinical manifestations, morphological, cardiological and electromyographic parameters.
Results. Weak skeletal muscle weakness in the proband and his father with desminopathy manifested itself at the age of 30, the last of which died of pulmonary heart disease 20 years after the manifestation of the disease.
In the two older generations, 75% of relatives had heart problems at the seventh decade of life (n = 5: myocardial infarction, coronary heart disease, bradycardia - pacemaker installed) and / or oncological diseases (n = 6: malignant tumors of the prostate gland, skin, bladder (2 cases), uterus, rectum), who later died from these pathologies. The described case shows different clinical manifestations and is of interest in understanding the pathogenesis of a hereditary disease.
Conclusion. The obtained data can be used in the future for advanced research by neurologists, cardiologists, immunologists, oncologists, and geneticists in order to reveal the mechanism of the disease.

Key words: desmin, DES, desminopathy, myofibrillar myopathy, mutation, cancer, electromyography, heart failure


 
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Pubmed Style

VIACHESLAV YURIEVICH PAULS. A Review of Clinical Data of Family Form of Myofibrillar Desmin Myopathy. SRP. 2019; 10(2): 130-136. doi:10.5530/srp.2019.2.21


Web Style

VIACHESLAV YURIEVICH PAULS. A Review of Clinical Data of Family Form of Myofibrillar Desmin Myopathy. http://www.sysrevpharm.org//?mno=302644942 [Access: June 01, 2020]. doi:10.5530/srp.2019.2.21


AMA (American Medical Association) Style

VIACHESLAV YURIEVICH PAULS. A Review of Clinical Data of Family Form of Myofibrillar Desmin Myopathy. SRP. 2019; 10(2): 130-136. doi:10.5530/srp.2019.2.21



Vancouver/ICMJE Style

VIACHESLAV YURIEVICH PAULS. A Review of Clinical Data of Family Form of Myofibrillar Desmin Myopathy. SRP. (2019), [cited June 01, 2020]; 10(2): 130-136. doi:10.5530/srp.2019.2.21



Harvard Style

VIACHESLAV YURIEVICH PAULS (2019) A Review of Clinical Data of Family Form of Myofibrillar Desmin Myopathy. SRP, 10 (2), 130-136. doi:10.5530/srp.2019.2.21



Turabian Style

VIACHESLAV YURIEVICH PAULS. 2019. A Review of Clinical Data of Family Form of Myofibrillar Desmin Myopathy. Systematic Reviews in Pharmacy, 10 (2), 130-136. doi:10.5530/srp.2019.2.21



Chicago Style

VIACHESLAV YURIEVICH PAULS. "A Review of Clinical Data of Family Form of Myofibrillar Desmin Myopathy." Systematic Reviews in Pharmacy 10 (2019), 130-136. doi:10.5530/srp.2019.2.21



MLA (The Modern Language Association) Style

VIACHESLAV YURIEVICH PAULS. "A Review of Clinical Data of Family Form of Myofibrillar Desmin Myopathy." Systematic Reviews in Pharmacy 10.2 (2019), 130-136. Print. doi:10.5530/srp.2019.2.21



APA (American Psychological Association) Style

VIACHESLAV YURIEVICH PAULS (2019) A Review of Clinical Data of Family Form of Myofibrillar Desmin Myopathy. Systematic Reviews in Pharmacy, 10 (2), 130-136. doi:10.5530/srp.2019.2.21





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