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Does nemaline myopathy affect children?

Does nemaline myopathy affect children?

As affected infants age, they often experience delays in attaining motor milestones or may not be able to sit up or walk independently. Children with intermediate congenital nemaline myopathy often require a wheelchair or ongoing breathing (ventilatory) support during childhhood.

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.

Is congenital myopathy a neurological disorder?

Congenital myopathy is a term sometimes applied to hundreds of distinct neuromuscular disorders that may be present at birth, but it is usually reserved for a group of rare, inherited, primary muscle disorders that cause hypotonia and weakness at birth or during the neonatal period and, in some cases, delayed motor …

Is nemaline myopathy fatal?

The Amish type solely affects the Old Order Amish population of Pennsylvania and is typically fatal in early childhood. The most common type of nemaline myopathy is the typical congenital type, which is characterized by muscle weakness and feeding problems beginning in infancy.

Is Nemaline myopathy a form of muscular dystrophy?

Nemaline myopathy is one of the neuromuscular diseases covered by the Muscular Dystrophy Association in the United States.

What are the signs and symptoms of myopathy?

The myopathies are neuromuscular disorders in which the primary symptom is muscle weakness due to dysfunction of muscle fiber. Other symptoms of myopathy can include include muscle cramps, stiffness, and spasm. Myopathies can be inherited (such as the muscular dystrophies) or acquired (such as common muscle cramps).

Is Nemaline myopathy a muscular dystrophy?

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.

Is congenital myopathy a disability?

Adults with congenital myopathy should be encouraged to get adequate exercise and to avoid unhealthy dietary and sedentary habits that may lead to obesity. Affected adults may experience episodes of mild muscle weakness, but generally there are no major physical disabilities.

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 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]

What are the symptoms of nemaline myopathy ( rod )?

Nemaline myopathy. Jump to navigation Jump to search. Nemaline myopathy (also called rod myopathy or nemaline rod myopathy) is a congenital, hereditary neuromuscular disorder with many symptoms that can occur such as muscle weakness, hypoventilation, swallowing dysfunction, and impaired speech ability.

When does Sporadic late onset nemaline myopathy ( SLONM ) occur?

Sporadic late onset nemaline myopathy (SLONM) is not a congenital disorder and is considered a different muscle disease from NM, which has its onset at birth or early childhood. Respiratory problems are usually a primary concern for people with all forms of NM, and respiratory infections are quite common.

Can a child with nemaline myopathy live to adulthood?

While respiratory failure or lung infections can be life-threatening in infancy, some affected infants survive to adulthood. Affected children usually attain motor milestones slowly, and at puberty they might experience further weakening. However, even people who have had the disease since birth can lead active lives.

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.