Nemaline Myopathy 2
Overview
Nemaline myopathy 2: A very rare inherited muscle disorder and is characterized by muscle weakness caused by the presence of nemaline rods in the muscle tissue which affects its function. There are at least 7 different subtypes of nemaline myopathy, each with a different genetic defect. The severity of the symptoms may vary greatly even among patients within a particular subtype of the disorder. Type 2 is caused by a defect on the nebulin gene on chromosome 2q22.
Symptoms
Breathing problems Reduced muscle tone at birth Limb weakness Trunk weakness Weak face muscles Respiratory muscle weakness Weak neck muscles Reduced or absent deep tendon reflexes Absent gag reflex Delayed motor development Waddling gait Throat weakness
Diagnosis
The phrase "signs of Nemaline myopathy 2" should, strictly speaking, refer only to those signs and symptoms of Nemaline myopathy 2 that are not readily apparent to the patient. The word "symptoms of Nemaline myopathy 2" is the more general meaning; see symptoms of Nemaline myopathy 2. The signs and symptom information on this page attempts to provide a list of some possible signs and symptoms of Nemaline myopathy 2. This medical information about signs and symptoms for Nemaline myopathy 2 has been gathered from various sources, may not be fully accurate, and may not be the full list of Nemaline myopathy 2 signs or Nemaline myopathy 2 symptoms. Furthermore, signs and symptoms of Nemaline myopathy 2 may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed Nemaline myopathy 2 symptoms.