Nemaline myopathy 1
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 1 is caused by a defect on the tropomyosin 3 gene on chromosome 1q22.
Normal motor development for first decade Progressive limb muscle weakness Difficulty running Dysphagia Weak throat muscles Wasted leg muscles High foot arch Facial weakness
Difficulty running Dysphagia Facial weakness High foot arch
The symptom information on this page attempts to provide a list of some possible signs and symptoms of Nemaline myopathy 1. This signs and symptoms information for Nemaline myopathy 1 has been gathered from various sources, may not be fully accurate, and may not be the full list of Nemaline myopathy 1 signs or Nemaline myopathy 1 symptoms. Furthermore, signs and symptoms of Nemaline myopathy 1 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 1 symptoms.