Is congenital myopathy progressive?
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.
Is congenital myopathy curable?
There are no known cures for any of these disorders. Supportive treatment may involve orthopedic treatments, as well as physical, occupational or speech therapy. Currently, only central core disease has an effective treatment (see above). There are no known cures for any of these disorders.
Are myopathies curable?
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.
How common are myopathies?
Who is at risk? The inflammatory myopathies are rare and can affect both adults and children. Dermatomyositis is the most common chronic form in children. Polymyositis and dermatomyositis are more common in females while inclusion body myositis affects more men.
Is congenital myopathy fatal?
Nemaline myopathy Severely affected patients may have weakness of respiratory muscles and respiratory failure. Moderate disease causes progressive weakness in muscles of the face, neck, trunk, and feet, but life expectancy may be nearly normal. Mild disease is nonprogressive, and life expectancy is normal.
What is the treatment of congenital myopathy?
There are no known cures for congenital myopathies. However, the recent advances in gene therapy can provide treatment for congenital myopathies. The supportive treatments, including physical, occupational and speech therapies, nutritional support, and assisted breathing, may be helpful.
What kind of doctor do you see for myopathy?
Patients with dermatomyositis, polymyositis, or necrotizing myopathy are usually treated by rheumatologists. Those with dermatomyositis may also work with a dermatologist. Those with IBM are often treated by neurologists.
What are the clinical features of congenital myopathies?
Congenital myopathies are a group of genetic muscle disorders characterized clinically by hypotonia and weakness, usually from birth, and a static or slowly progressive clinical course. Historically, congenital myopathies have been classified on the basis of major morphological features seen on musc …
Is the NCS normal in congenital myopathy?
In congenital myopathy, NCS findings can be normal or demonstrate low-amplitude responses in the motor nerve conduction studies in severe cases, while the EMG findings are either normal or show the typical small-amplitude, narrow-duration motor unit potentials (MUPs) that are seen in myopathies.
Who are the Italian collaborators on congenital myopathies?
Collaborators Italian Network on Congenital Myopathies: