mcardle's disease
Học thuậtThân thiện
Definition
Noun: An inherited metabolic disorder characterized by the abnormal accumulation of glycogen in skeletal muscle tissue. This accumulation is caused by a deficiency of the enzyme myophosphorylase, which is necessary for breaking down glycogen into glucose for energy. The primary symptoms include muscle weakness, pain, stiffness, and cramping, particularly during or after physical exercise.
Usage
The term is used specifically in medical and clinical contexts to diagnose and discuss this particular glycogen storage disease (Type V). It is a proper noun, often capitalized.
Examples
- The patient's exercise intolerance and muscle cramps led doctors to test for McArdle's disease.
- McArdle's disease is one of several inherited disorders that affect how the body stores and uses glycogen.
- Managing McArdle's disease often involves a specific diet and carefully regulated physical activity.
Advanced Usage
- The condition is also known medically as .
- Diagnosis of McArdle's disease typically involves a combination of symptom assessment, a forearm exercise test, and genetic testing to confirm the enzyme deficiency.
Variants and Related Words
- Glycogen Storage Disease Type V (GSD V): The formal medical synonym.
- Myophosphorylase deficiency: A description of the specific enzymatic cause of the disease.
Synonyms
- Glycogenosis Type V
- Myophosphorylase deficiency
Related Terms and Concepts
- Glycogen: The complex carbohydrate that is abnormally stored.
- Myophosphorylase: The deficient enzyme.
- Metabolic myopathy: The broader category of muscle diseases caused by defects in metabolism to which McArdle's disease belongs.
- Exercise intolerance: A key symptom of the condition.
Noun
- an inherited disease in which abnormal amounts of glycogen accumulate in skeletal muscle; results in weakness and cramping