Hypothyroid myopathy and its association with MICU1 gene mutations: a clinical caseauthors
M. A. Perepelova,
V. K Slokva,
E. A. Pigarova,
A. S. Shutova,
A. A. Kolodkina,
A. V. Perepelov,
L. K. Dzeranova https://doi.org/10.14341/omet13287
Abstract
Thyroid hormones are involved in the activation of glycogenolysis and mitochondrial oxidative phosphorylation. Kocher– Debré–Semelaigne Syndrome, also known as hypothyroid myopathy, is characterized by reduced glycogenolytic activity, leading to glycogen deposition in muscles. These reserves begin to deplete as euthyroidism is achieved.
Primarily, patients complain of muscle weakness, mainly in the proximal muscle groups, stiffness, myalgia, and cramps. A distinctive feature of hypothyroid myopathies is the reversibility of clinical manifestations and a significant improvement in well-being with medical compensation of the disease. However, the absence of a pronounced clinical picture of hypothyroidism, combined with its rare occurrence, complicates early diagnosis and often requires differential diagnosis with other types of myopathies. This article presents a clinical case of a combination of genetically determined myopathy with extrapyramidal symptoms, associated with a mutation in the MICU1 gene, and hypothyroid myopathy associated with congenital hypothyroidism in a patient from a consanguineous marriage.
About the Authors
M. A. Perepelova
Endocrinology Research Center
Russian Federation
Competing Interests:
Russian Federation
Margarita A. Perepelova, MD
11 Dm. Ulyanova street, 117292 Moscow
Competing Interests:
Авторы декларируют отсутствие явных и потенциальных конфликтов интересов, связанных с содержанием настоящей статьи
V. K Slokva
Clinical Diagnostic Center № 4, Branch 1
Russian Federation
Competing Interests:
Russian Federation
Valeria K. Slokva, MD
Moscow
Competing Interests:
Авторы декларируют отсутствие явных и потенциальных конфликтов интересов, связанных с содержанием настоящей статьи
E. A. Pigarova
Endocrinology Research Center
Russian Federation
Competing Interests:
Russian Federation
Ekaterina A. Pigarova, MD, PhD
Moscow
Competing Interests:
Авторы декларируют отсутствие явных и потенциальных конфликтов интересов, связанных с содержанием настоящей статьи
A. S. Shutova
Endocrinology Research Center
Russian Federation
Competing Interests:
Russian Federation
Aleksandra S. Shutova, MD, PhD
Moscow
Competing Interests:
Авторы декларируют отсутствие явных и потенциальных конфликтов интересов, связанных с содержанием настоящей статьи
A. A. Kolodkina
Endocrinology Research Center
Russian Federation
Competing Interests:
Russian Federation
Anna A. Kolodkina, MD, PhD
Moscow
Competing Interests:
Авторы декларируют отсутствие явных и потенциальных конфликтов интересов, связанных с содержанием настоящей статьи
A. V. Perepelov
IATE MEPHI
Russian Federation
Competing Interests:
Russian Federation
Alexsander V. Perepelov, MD, PhD
Obninsk
Competing Interests:
Авторы декларируют отсутствие явных и потенциальных конфликтов интересов, связанных с содержанием настоящей статьи
L. K. Dzeranova
Endocrinology Research Center
Russian Federation
Competing Interests:
Russian Federation
Larisa K. Dzeranova, MD, Sc.D.
Moscow
Competing Interests:
Авторы декларируют отсутствие явных и потенциальных конфликтов интересов, связанных с содержанием настоящей статьи
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Review
For citations:
Perepelova M.A., Slokva V.K., Pigarova E.A., Shutova A.S., Kolodkina A.A., Perepelov A.V., Dzeranova L.K. Hypothyroid myopathy and its association with MICU1 gene mutations: a clinical caseauthors. Obesity and metabolism. 2025;22(3):263-268. (In Russ.) https://doi.org/10.14341/omet13287
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