Approach to the metabolic myopathies
- Basil T Darras, MD
Basil T Darras, MD
- Professor of Neurology
- Harvard Medical School
This topic review will provide an overview of the evaluation of the patient with a suspected metabolic myopathy. Detailed descriptions of the different disorders are presented separately. (See "Overview of inherited disorders of glucose and glycogen metabolism" and "Metabolic myopathies caused by disorders of lipid and purine metabolism" and "Mitochondrial myopathies: Clinical features and diagnosis".)
An overview of the biochemistry of energy metabolism in muscle is also discussed elsewhere. (See "Energy metabolism in muscle".)
OVERVIEW OF CLINICAL MANIFESTATIONS
The symptoms, signs, and laboratory abnormalities resulting from a metabolic myopathy vary with the underlying defect. Most patients with a metabolic myopathy (eg, glycogen storage diseases, carnitine palmitoyltransferase deficiency) have dynamic rather than static symptoms, and therefore usually complain of exercise intolerance or muscle pain and cramps with exercise. Nevertheless, other patients may develop progressive muscular weakness that is usually proximal (mimicking inflammatory myopathy or limb girdle muscular dystrophy), but is sometimes distal. In a smaller group of patients, both dynamic and static symptoms predominate (table 1).
Disorders of glycogen metabolism — Inherited disorders that result in abnormal storage of glycogen are known as glycogen storage diseases. These disorders have largely been categorized by number according to the chronology of recognition of the responsible enzyme defect (table 2). The age of onset varies from birth to adulthood. (See "Overview of inherited disorders of glucose and glycogen metabolism".)
In patients with defects of carbohydrate metabolism, muscle symptoms are induced by either brief isometric exercise, such as lifting heavy weights, or by less intense but sustained dynamic exercise, such as swimming, climbing stairs, or running. Acute muscle breakdown may lead to myoglobinuria, cramps, and muscle swelling.To continue reading this article, you must log in with your personal, hospital, or group practice subscription. For more information on subscription options, click below on the option that best describes you:
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- OVERVIEW OF CLINICAL MANIFESTATIONS
- Disorders of glycogen metabolism
- Disorders of lipid metabolism
- Mitochondrial disorders
- Myoglobinuria and rhabdomyolysis
- EVALUATION AND DIAGNOSIS
- Symptom assessment
- Serum and urine testing
- - Lipid metabolism defects
- Semi-ischemic exercise test
- Muscle biopsy
- Molecular genetic techniques
- INFORMATION FOR PATIENTS
- SUMMARY AND RECOMMENDATIONS