Differential Diagnosis of Metabolic Myopathies

cocukmetabolizma-5-1-2024

Ayşe KILIÇa

aAnkara Training and Research Hospital, Clinic of Pediatric Metabolism Diseases, Ankara, Türkiye

ABSTRACT
Metabolic myopathies are a group of inborn metabolic diseases due to defects in carbohydrates metabolism, lipids metabolism and mitochondrial respiratory chain causing energy deficiency. Skeletal muscles are primarily affected, though other systems may also be affected. Inherited myopathies including congenital myopathies, channelopathies, muscular dystrophies as well as acquired myopathies such as inflammatory myopathies, toxic myopathies, infectious myopathies, endocrine myopathies, should be considered for the differential diagnosis of metabolic myopathies.
Keywords: Congenital myopathy; muscular dystrophy; toxic myopathy; autoimmune myopathy

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