What is the prognosis for someone with Nemaline myopathy?
Most patients are able to live an independent, active life. Severe congenital NM (10-20% of patients; see this term) is characterized by severe hypotonia and little spontaneous movement. Survival after infancy is rare.
What does myopathy pain feel like?
The common symptoms of myopathy are muscle weakness, impaired function in activities of daily life, and, rarely, muscle pain and tenderness. Significant muscle pain and tenderness without weakness should prompt consideration of other causes.
Is there a cure for Nemaline myopathy?
There is currently no effective treatment or cure to halt the progression, but management of the condition is very important and includes physiotherapy, and where necessary the use of ventilation and/or a feeding tube.
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 Nemaline myopathy?
Nemaline myopathy is defined by muscle weakness and the presence of fine, thread-like or rod-like structures called “nemaline bodies”, when muscle biopsies are viewed under the microscope.
What does nemaline myopathy do?
Nemaline myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with nemaline myopathy have muscle weakness (myopathy) throughout the body, but it is typically most severe in the muscles of the face, neck, and limbs. This weakness can worsen over time.
Is nemaline myopathy a muscular dystrophy?
Nemaline myopathy is one of the neuromuscular diseases covered by the Muscular Dystrophy Association in the United States.
What are symptoms of nemaline myopathy?
Characteristic symptoms of all forms of nemaline myopathy include muscle weakness, diminished muscle tone (hypotonia), and reduced or absent reflexes. In most people, muscle weakness is static (nonprogressive) over time. Weakness of the muscles of breathing and swallowing are the major cause of morbidity and mortality.
What causes nemaline myopathy?
Is nemaline myopathy congenital?
The most common type of nemaline myopathy is the typical congenital type, which is characterized by muscle weakness and feeding problems beginning in infancy. Most of these individuals do not have severe breathing problems and can walk unassisted.
What kind of muscle weakness does nemaline myopathy cause?
People with nemaline myopathy have muscle weakness (myopathy) throughout the body, but it is typically most severe in the muscles of the face; neck; trunk; and other muscles close to the center of the body (proximal muscles), such as those of the upper arms and legs. This weakness can worsen over time.
Can a person with nemaline myopathy walk or ride a bike?
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.
Why do babies with nemaline myopathy need a feeding tube?
Muscle weakness may also cause difficulty speaking (dysarthria) and swallowing resulting in feeding difficulties. Some infants with nemaline myopathy may require a feeding tube. Breathing (respiratory) difficulties may also occur because of muscle weakness.