Nemaline myopathy (also called rod myopathy or nemaline rod myopathy) is a congenital, often hereditary neuromuscular disorder with many symptoms that can occur such as muscle weakness, hypoventilation, swallowing dysfunction, and impaired speech ability. The severity of these symptoms varies and can change throughout ones life to some extent. The prevalence is estimated at 1 in 50,000 live births. 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. While the rods are diagnostic of the disorder, they are more likely a byproduct of the disease process rather than causing any dysfunction on their own. People with nemaline myopathy (NM) usually experience delayed motor development, or no motor development in severe cases, and weakness may occur in all of the skeletal muscles, such as muscles in the arms, legs, torso, neck flexors, throat, and face. The weakness tends to be more severe in the proximal muscles rather than the distal muscles. The ocular muscles are normally spared. The disorder is often clinically categorized into groups with wide ranges of overlapping severity, from the most severe neonatal form which is incompatible with life, to a form so mild that it may not be diagnosed since the person appears to function at the lowest end of normal strength and breathing adequacy. 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.
Because all three are involved in forming the hexameric glycoprotein fibrinogen, mutations in any one of the three genes can cause the deficiency. Diagnosis
Treatment
The most common type of treatment is cryoprecipitate or fibrinogen concentrate drip to increase fibrinogen levels to normal during surgical procedures or after trauma. RiaSTAP, a factor I concentrate, was approved by the U.S. FDA in 2009 for use when the fibrinogen level was below 50 mg/deciliter of plasma. Recently, antifibrinolytics have also been used to inhibit fibrinolysis (breaking down of the fibrin clot). In the case of dysfibrinogenemia that manifests by thrombosis, anticoagulants can be used. Due to the inhibited clotting ability associated with a- and hypofibrinogenemia, physicians advise against the use of Aspirin as it inhibits platelet function. See also
Congenital afibrinogenemia
Hypodysfibrinogenemia

References


== External links ==