What are the signs of myopathy?
What are the symptoms of myopathy?
- Muscle weakness, most commonly of your upper arms and shoulders and thighs (more common and more severe).
- Muscle cramps, stiffness and spasms.
- Fatigue with exertion.
- Lack of energy.
What is the prognosis for someone with nemaline myopathy?
Most people with nemaline myopathy are able to walk, although some affected children may begin walking later than usual. As the condition progresses, some people may require wheelchair assistance. In severe cases, the muscles used for breathing are affected and life-threatening breathing difficulties can occur.
What is the first diagnostic finding in a newborn baby with myopathy?
General symptoms of congenital myopathy in a newborn are the slow, progressive loss of muscle tone characterized by floppiness (hypotonia) and general weakness. Early motor skills and other critical developmental milestones may be delayed.
What causes nemaline myopathy?
This disease is caused by a variety of genetic defects, each one affecting one of the filament proteins required for muscle tone and contraction. It can be inherited in an autosomal recessive or autosomal dominant pattern, meaning it can be produced by defective genes contributed by either one or both parents.
What is the best treatment for myopathy?
Supportive and symptomatic treatment may be the only treatment available or necessary for some disorders. Treatment for other disorders may include drug therapy, such as immunosuppressives, physical therapy, bracing to support weakened muscles, and surgery. The prognosis for individuals with a myopathy varies.
Is nemaline myopathy fatal?
Six different clinical subtypes of nemaline myopathy have been identified based on disease severity and age of onset, ranging from a severe congenital-onset (at birth) form that is usually lethal in the first few months of life, through to less severe forms with onset in childhood or adulthood.
Does myopathy affect speech?
Bulbar muscle dysfunctions can be especially apparent in congenital myopathies (those present from birth), and can result in severe impairments to swallowing and speech abilities. Congenital myopathies also are characterized by developmental motor delays and, at times, facial or skeletal abnormalities.
Can myopathy be cured?
The chronic inflammatory myopathies can’t be cured in most adults but many of the symptoms can be treated. Options include medication, physical therapy, and rest. Polymyositis, dermatomyositis, and necrotizing autoimmune nmyopathy are first treated with high doses of corticosteroid drugs such as prednisone.
What medications are used to treat myopathy?
Medication for Inflammatory Myopathies
- Corticosteroids. These medications suppress inflammation.
- Immunosuppressants. For people whose symptoms cause pain and limit mobility, doctors may prescribe immune-suppressing medications, or immunosuppressants.
- Intravenous Immunoglobulin.
How is nemaline myopathy diagnosed?
A diagnosis may be confirmed by the presence of thread- or rod-like structures (nemaline bodies) on muscle biopsy when stained with Gomori trichrome. A biopsy is the surgical removal and microscopic evaluation of affected tissue.
Is nemaline myopathy a genetic disorder?
Causes. Nemaline myopathy is caused by mutations in one of at least 11 different genes. Nemaline myopathy is a clinically and genetically heterogeneous disorder and both autosomal dominant and autosomal recessive forms can occur.