Metabolic myopathy: Difference between revisions
CSV import |
CSV import |
||
| Line 1: | Line 1: | ||
{{SI}} {{Infobox medical condition | |||
| name = Metabolic myopathy | |||
| image = [[File:Hydrolysis_of_ATP.png|250px]] | |||
| caption = Hydrolysis of ATP, a key process affected in metabolic myopathies | |||
| synonyms = | |||
| pronounce = | |||
| specialty = [[Neurology]], [[Endocrinology]] | |||
| symptoms = Muscle weakness, exercise intolerance, muscle cramps | |||
| onset = Varies, often childhood or early adulthood | |||
| duration = Chronic | |||
| types = [[Glycogen storage disease]], [[Mitochondrial myopathy]], [[Lipid storage myopathy]] | |||
| causes = Genetic mutations affecting muscle metabolism | |||
| risks = Family history of metabolic disorders | |||
| diagnosis = [[Muscle biopsy]], [[Genetic testing]], [[Blood test]] | |||
| differential = [[Muscular dystrophy]], [[Inflammatory myopathy]] | |||
| treatment = Dietary management, exercise modification, medications | |||
| medication = | |||
| prognosis = Varies depending on type and severity | |||
| frequency = Rare | |||
}} | |||
'''Metabolic Myopathy''' is a group of [[metabolic disorder|metabolic disorders]] that primarily affect the [[muscle|muscles]]. These disorders are caused by defects in the processing of [[nutrient|nutrients]] within the body, leading to a range of symptoms including muscle weakness, cramps, and in severe cases, [[rhabdomyolysis]]. | '''Metabolic Myopathy''' is a group of [[metabolic disorder|metabolic disorders]] that primarily affect the [[muscle|muscles]]. These disorders are caused by defects in the processing of [[nutrient|nutrients]] within the body, leading to a range of symptoms including muscle weakness, cramps, and in severe cases, [[rhabdomyolysis]]. | ||
[[File:1008_Skeletal_Muscle_Contraction.jpg|Skeletal Muscle Contraction|thumb|left]] | |||
== Causes == | == Causes == | ||
Metabolic myopathies are caused by genetic mutations that lead to deficiencies in the enzymes needed for muscle energy production. These enzymes are involved in the breakdown of [[carbohydrate|carbohydrates]] and [[fat|fats]], the primary sources of energy for muscle cells. The specific enzyme deficiency determines the type of metabolic myopathy, such as [[McArdle's disease]], [[Carnitine palmitoyltransferase II deficiency|CPT II deficiency]], and [[Mitochondrial myopathy|mitochondrial myopathies]]. | Metabolic myopathies are caused by genetic mutations that lead to deficiencies in the enzymes needed for muscle energy production. These enzymes are involved in the breakdown of [[carbohydrate|carbohydrates]] and [[fat|fats]], the primary sources of energy for muscle cells. The specific enzyme deficiency determines the type of metabolic myopathy, such as [[McArdle's disease]], [[Carnitine palmitoyltransferase II deficiency|CPT II deficiency]], and [[Mitochondrial myopathy|mitochondrial myopathies]]. | ||
== Symptoms == | == Symptoms == | ||
The symptoms of metabolic myopathies vary depending on the specific disorder and the severity of the enzyme deficiency. Common symptoms include muscle weakness, fatigue, muscle cramps, and exercise intolerance. In severe cases, patients may experience rhabdomyolysis, a condition characterized by the breakdown of muscle tissue leading to the release of muscle fiber contents into the bloodstream. | The symptoms of metabolic myopathies vary depending on the specific disorder and the severity of the enzyme deficiency. Common symptoms include muscle weakness, fatigue, muscle cramps, and exercise intolerance. In severe cases, patients may experience rhabdomyolysis, a condition characterized by the breakdown of muscle tissue leading to the release of muscle fiber contents into the bloodstream. | ||
== Diagnosis == | == Diagnosis == | ||
Diagnosis of metabolic myopathies involves a combination of clinical evaluation, laboratory testing, and genetic testing. [[Muscle biopsy|Muscle biopsies]] may also be performed to examine the muscle tissue for signs of metabolic disease. | Diagnosis of metabolic myopathies involves a combination of clinical evaluation, laboratory testing, and genetic testing. [[Muscle biopsy|Muscle biopsies]] may also be performed to examine the muscle tissue for signs of metabolic disease. | ||
== Treatment == | == Treatment == | ||
Treatment for metabolic myopathies is primarily supportive and focuses on managing symptoms and preventing complications. This may include dietary modifications, physical therapy, and in some cases, medication. | Treatment for metabolic myopathies is primarily supportive and focuses on managing symptoms and preventing complications. This may include dietary modifications, physical therapy, and in some cases, medication. | ||
== See also == | == See also == | ||
* [[Glycogen storage disease]] | * [[Glycogen storage disease]] | ||
* [[Lipid storage disorder]] | * [[Lipid storage disorder]] | ||
* [[Mitochondrial disease]] | * [[Mitochondrial disease]] | ||
[[Category:Metabolic disorders]] | [[Category:Metabolic disorders]] | ||
[[Category:Muscular disorders]] | [[Category:Muscular disorders]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
{{stub}} | {{stub}} | ||
Latest revision as of 05:00, 6 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| Metabolic myopathy | |
|---|---|
| |
| Synonyms | |
| Pronounce | |
| Specialty | Neurology, Endocrinology |
| Symptoms | Muscle weakness, exercise intolerance, muscle cramps |
| Complications | N/A |
| Onset | Varies, often childhood or early adulthood |
| Duration | Chronic |
| Types | Glycogen storage disease, Mitochondrial myopathy, Lipid storage myopathy |
| Causes | Genetic mutations affecting muscle metabolism |
| Risks | Family history of metabolic disorders |
| Diagnosis | Muscle biopsy, Genetic testing, Blood test |
| Differential diagnosis | Muscular dystrophy, Inflammatory myopathy |
| Prevention | N/A |
| Treatment | Dietary management, exercise modification, medications |
| Medication | |
| Prognosis | Varies depending on type and severity |
| Frequency | Rare |
| Deaths | N/A |
Metabolic Myopathy is a group of metabolic disorders that primarily affect the muscles. These disorders are caused by defects in the processing of nutrients within the body, leading to a range of symptoms including muscle weakness, cramps, and in severe cases, rhabdomyolysis.
Causes[edit]
Metabolic myopathies are caused by genetic mutations that lead to deficiencies in the enzymes needed for muscle energy production. These enzymes are involved in the breakdown of carbohydrates and fats, the primary sources of energy for muscle cells. The specific enzyme deficiency determines the type of metabolic myopathy, such as McArdle's disease, CPT II deficiency, and mitochondrial myopathies.
Symptoms[edit]
The symptoms of metabolic myopathies vary depending on the specific disorder and the severity of the enzyme deficiency. Common symptoms include muscle weakness, fatigue, muscle cramps, and exercise intolerance. In severe cases, patients may experience rhabdomyolysis, a condition characterized by the breakdown of muscle tissue leading to the release of muscle fiber contents into the bloodstream.
Diagnosis[edit]
Diagnosis of metabolic myopathies involves a combination of clinical evaluation, laboratory testing, and genetic testing. Muscle biopsies may also be performed to examine the muscle tissue for signs of metabolic disease.
Treatment[edit]
Treatment for metabolic myopathies is primarily supportive and focuses on managing symptoms and preventing complications. This may include dietary modifications, physical therapy, and in some cases, medication.
