• INCLUSION CRITERIA:

  1. Age 4-80 years, either gender, inclusive.
  2. Diagnosis of GNE myopathy or GNE-related diseases based upon the identification of GNE gene mutations. Molecular confirmation of the diagnosis will be obtained for all subjects in the study.
  3. Subjects that are a carrier family member of a patient on the study are eligible to participate.
  4. Must be able to provide informed consent.

EXCLUSION CRITERIA:

1. Psychiatric illness or other diseases that would interfere with the subject s ability to comply with the requirements of this protocol.
2. Hepatic laboratory parameters (aspartate aminotransferase [AST], alanine aminotransferase [ALT]) or renal laboratory parameters (creatinine, blood urea nitrogen [BUN]) greater than 3 times the upper limit of normal.
3. Presence of clinically significant cardiovascular, pulmonary, hepatic, renal, hematological, metabolic, or gastrointestinal disease not related to the primary disease process.