Mitochondrial Myopathies (MM) - Diseases - Muscular …
Mitochondrial myopathies are caused by mutations, or changes, in genes — the cells' blueprint for making proteins. They are inheritable, although they can occur with no family history, and they often affect members of the same family in different ways. For more, see Causes/Inheritance.
Mitochondrial Diseases: Causes, Symptoms & Treatment - Cleveland Clinic
Mitochondrial diseases are a group of genetic conditions that affect how mitochondria in your cells produce energy. Mitochondria produce most of the energy your body needs. If you have a mitochondrial disease, your cells aren’t able to produce enough energy. There isn’t a cure, but treatment can prevent life-threatening complications.
Mitochondrial myopathy - Wikipedia
Mitochondrial myopathy literally means mitochondrial muscle disease, muscle disease caused by mitochondrial dysfunction. The mitochondrion is the primary producer of energy in nearly all cells throughout the body.
Mitochondrial Myopathy - Children's Hospital of Philadelphia
Mitochondrial myopathies are forms of mitochondrial disease that cause prominent muscle problems, a grouping based on both symptoms and non-genetic clinical tests. Three types of muscles can be affected by the myopathy: Skeletal — the muscles around the bones and eyes. Cardiac — the heart muscles.
Mitochondrial Disorders | National Institute of Neurological …
2024年7月19日 · Mitochondrial encephalomyopathy often includes some symptoms of myopathy, plus one or more neurological symptoms. In addition to affecting the muscles around the eye, mitochondrial encephalomyopathy can affect …
Mitochondrial Myopathies (MM) - Muscular Dystrophy Association
The main symptoms of mitochondrial myopathies are muscle weakness and atrophy (shrinking) and exercise intolerance. Furthermore, mitochondrial disorders can occasionally present only with these muscle symptoms and elevated or normal serum creatine kinase (CK), myalgia, or, less often, rhabdomyolysis (toxic muscle breakdown).
Mitochondrial myopathies: Clinical features and diagnosis
2024年1月29日 · When skeletal muscle is affected, either alone or with central nervous system disease, the term mitochondrial myopathy is used. The epidemiology, clinical manifestations, and diagnosis of the mitochondrial myopathies are discussed in this topic review.
Understanding mitochondrial myopathies: a review - PMC
Mitochondrial myopathies are mitochondrial diseases that cause prominent muscular symptoms such as muscle weakness and usually present with a multitude of symptoms and can affect virtually all organ systems.
A clinical approach to diagnosis and management of mitochondrial myopathies
2023年12月19日 · This paper provides an overview of the different types of mitochondrial myopathies (MM), associated phenotypes, genotypes as well as a practical clinical approach towards disease diagnosis, surveillance, and management. nDNA-related MM are more common in pediatric-onset disease whilst mtDNA-related MMs are more frequent in adults.
Diagnosis and treatment of mitochondrial myopathies - PMC
2011年8月25日 · Mitochondrial myopathies (MM) comprise a large heterogeneous group of disorders resulting from primary dysfunction of the mitochondrial respiratory chain and causing muscle disease.