What is the most common form of Nemaline myopathy?

It is the most common non-dystrophic myopathy. “Myopathy” means muscle disease. Muscle fibers from a person with nemaline myopathy contains thread-like rods, sometimes called nemaline bodies….Causes.

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.

How does Nemaline myopathy affect the muscular system?

The major clinical features of nemaline myopathy are muscle weakness, hypotonia and reduced or absent reflexes. Muscle weakness is usually most severe in muscles of the face, neck and proximal muscles.

What is Myopathic face?

Definition. A facial appearance characteristic of myopathic conditions. The face appears expressionless with sunken cheeks, bilateral ptosis, and inability to elevate the corners of the mouth, due to muscle weakness. [ from HPO]

Who affects myopathy?

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. Inclusion body myositis usually affects individuals over age 50.

What are the signs and symptoms of central core disease?

Common symptoms include diminished muscle tone (hypotonia) resulting in “floppiness”, muscle weakness, and delays in reaching developmental milestones. Some individuals may develop breathing (respiratory) or feeding difficulties.

What is Paramyotonia?

Paramyotonia congenita (PMC) is a rare non-progressive genetic disorder that affects the skeletal muscles. The disorder typically begins in infancy or early childhood. Affected individuals experience spells of muscle stiffness or when the muscles do not relax after contracting (myotonia).

What is Emery Dreifuss?

Emery-Dreifuss muscular dystrophy (EDMD) is one of the muscular dystrophies. These are a group of rare, inherited muscle diseases (myopathies). EDMD causes weakness in your child’s shoulders, upper arms, and calves. The disease also causes stiff joints that can’t move well (contractures).

Does myopathy go away?

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 is Multiminicore disease?

Multiminicore disease is a disorder that primarily affects muscles used for movement (skeletal muscles). This condition causes muscle weakness and related health problems that range from mild to life-threatening.

What are the different types of nemaline myopathy?

In severe cases, the muscles used for breathing are affected and life-threatening breathing difficulties can occur. Nemaline myopathy is divided into six types. In order of decreasing severity, the types are: severe congenital, Amish, intermediate congenital, typical congenital, childhood-onset, and adult-onset.

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.

Which is the best description of congenital myopathy?

Congenital myopathy is a general term for a group of muscle disorders (myopathies) that are present at birth (congenital). These disorders are characterized by muscle weakness, hypotonia, diminished reflexes, and delays in reaching motor milestones (e.g., walking).

What is the life expectancy of neonatal onset rod myopathy?

The neonatal onset Rod Myopathy has a poor life expectancy and the patients often do not live more than 2 to 3 years. However, individuals suffering from less severe forms can have a normal lifespan with regular treatment. It is not possible to prevent NM as it is a hereditary condition.