What is ACTA1 myopathy?
What is ACTA1 myopathy?
Nemaline myopathy is the most common muscle disorder associated with ACTA1 gene mutations. Some of the mutations that cause this disorder alter the structure or function of skeletal α-actin, causing the protein to cluster together and form clumps (aggregates).
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 curable?
Congenital myopathies can’t be cured, but doctors can help you manage the condition and symptoms. Treatment may include several options. Genetic counseling. Genetic counselors may help you understand the genetics of the condition.
What is Cap myopathy?
Cap myopathy is a disorder that primarily affects skeletal muscles, the muscles that the body uses for movement. People with cap myopathy have muscle weakness (myopathy) and poor muscle tone (hypotonia) throughout the body, but they are most severely affected in the muscles of the face, neck, and limbs.
What does the ACTA1 gene do?
The ACTA1 gene provides instructions for making a protein called skeletal alpha (α)-actin, which is part of the actin protein family. Actin proteins are important for cell movement and the tensing of muscle fibers (muscle contraction).
What are the signs and symptoms of actin accumulation myopathy?
People with actin-accumulation myopathy have severe muscle weakness (myopathy) and poor muscle tone (hypotonia) throughout the body. Signs and symptoms of this condition are apparent in infancy and include feeding and swallowing difficulties, a weak cry, and difficulty with controlling head movements.
What are the genes involved in nemaline myopathy?
The genes involved in nemaline myopathy contain instructions for creating (encoding) certain proteins that play an essential role in the normal structure and function of the contractile apparatus of skeletal muscle. Mutations to these genes result in deficiency or dysfunction of these proteins.
How does muscle weakness affect nemaline myopathy (dysarthria)?
Muscle weakness may also cause difficulty speaking (dysarthria) and swallowing resulting in feeding difficulties. Some infants with nemaline myopathy may require a feeding tube.
