0
What else can I help you with?
How are mitochondrial myopathies diagnosed?
The diagnosis of mitochondrial myopathies is initially clinical, which means that it is based on the observable clinical manifestations that the patient shows versus results obtained from genetic analysis or laboratory tests
What are some congenital conditions classed as congenital myopathies?
Congenital myopathies are a group of myopathies, usually present from birth, that display structural changes in the skeletal muscles. The list of diseases defined as congenital myopathies varies.
What does the diagnostic criteria for mitochondrial myopathies involve?
The diagnostic criteria for mitochondrial myopathies involve phenotypic evaluation (or evaluation of observable traits), followed by laboratory evaluation
Who are patients with mitochondrial myopathies referred to?
Persons with mitochondrial myopathies are referred to a clinical geneticist for management and further evaluation, particularly in the absence of a confident clinical diagnosis
How are congenital myopathies treated?
As of 2004, there is no cure for the congenital myopathies. The purpose of treatment, which is largely supportive, is to help patients optimize function and to manage any medical complications associated with the disorder.
What do the symptoms of mitochondrial myopathies depend on?
Symptoms of mitochondrial myopathies are largely variable from person to person, even within the same family, and are dependent on the amount and type of genetic mutations present
What is the most common disease in muscles?
They are muscular dystrophies, myopathies, multiple sclerosis.
What defects can be present in individuals with mitochondrial myopathies?
Defects can involve seizures, movement disorders , headaches , and cognitive (thought) disorders such as developmental delay or dementia (forgetfulness, senility). People with mitochondrial myopathies can also have hearing loss
What are Examples of inappropriate responses of the immune system?
Fever, Inflammatory myopathies, and vitamin A deficiency.
What has the author Lawrence J Kagen written?
Lawrence J. Kagen has written: 'Myositis & Myopathies'
What is a disease that attacks the muscular system?
In general diseases that attack the muscles are called myopathies. Muscular dystrophy would be one example.
Why proximal muscles are commonly affected in myopathies?
Proximal muscles are commonly affected in myopathies due to their reliance on specific muscle fibers that are often more susceptible to metabolic and inflammatory processes. These muscles, which include those in the shoulders, hips, and thighs, are typically involved in core stability and limb movement, making them more vulnerable to dysfunction. Additionally, many myopathies target the muscle's structural components, such as the sarcomeres or membranes, which can particularly impact proximal muscle strength and function. As a result, weakness in these areas is often one of the first clinical signs of myopathy.
