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Metabolic myopathies are categorized by the metabolic pathway to which the deficient enzyme or transport protein belongs. The main categories of metabolic myopathies are listed below: [5] Muscle glycogen storage diseases (Muscle GSDs) and other inborn errors of carbohydrate metabolism that affect muscle—defect in sugar (carbohydrate) metabolism.
Glycogen storage disease type V (GSD5, GSD-V), [1] also known as McArdle's disease, [2] is a metabolic disorder, one of the metabolic myopathies, more specifically a muscle glycogen storage disease, caused by a deficiency of myophosphorylase. [3] [4] Its incidence is reported as one in 100,000, roughly the same as glycogen storage disease type ...
Distal muscular dystrophy, also called distal myopathy, is essentially any muscle disease that preferentially affects the hands and/or feet, a much less common pattern than proximal muscle weakness. Late adult-onset type 1; Late adult-onset type 2a; Late adult-onset type 2b; Early adult-onset type 1; Early adult-onset type 2; Early adult-onset ...
Glutaric acidemia type 2 is an autosomal recessive metabolic disorder that is characterised by defects in the ability of the body to use proteins and fats for energy. Incompletely processed proteins and fats can build up, leading to a dangerous chemical imbalance called acidosis .
Metabolic myopathies, which affect the production of ATP within the muscle cell, typically present with dynamic (exercise-induced) rather than static symptoms. [4] Most of the inflammatory myopathies can have a chance association with malignant lesion; the incidence appears to be specifically increased only in patients with dermatomyositis.
Danon disease (or glycogen storage disease Type IIb) is a metabolic disorder. [1] Danon disease is an X-linked lysosomal and glycogen storage disorder associated with hypertrophic cardiomyopathy, skeletal muscle weakness, and intellectual disability. [2] It is inherited in an X-linked dominant pattern. [1]
Myopathy. May have a pseudoathletic appearance of hypertrophic muscles. [16] Failure to thrive [17] myogenic hyperuricemia [18] GSD IV / GSD 4 (Andersen's disease) Glycogen branching enzyme 1 in 500,000 [19] No Yes, also cirrhosis: No Myopathy and dilated cardiomyopathy Failure to thrive, death at age ~5 years GSD V / GSD 5 (McArdle's disease)
There is an increased risk that statin (cholesterol-reducing drugs) will cause myopathy (muscle weakness) in individuals with MADD. [10]Anesthesia has the potential to cause malignant hyperthermia, an uncontrolled increase in body temperature, and permanent muscle damage in patients with MADD.