GTR Home > Conditions/Phenotypes > Myasthenia, limb-girdle, with tubular aggregates

Summary

Limb-girdle myasthenia with tubular aggregates is an autosomal recessive neuromuscular disorder characterized by onset of proximal muscle weakness in the first decade. EMG classically shows a decremental response to repeated nerve stimulation. Affected individuals showed a favorable response to acetylcholinesterase (AChE) inhibitors (summary by Senderek et al., 2011). For a discussion of genetic heterogeneity of congenital myasthenic syndromes, see 608931. See also CMSTA2 (614750), caused by mutation in the DPAGT1 gene (191350) on chromosome 11q23. [from OMIM]

Associated genes

  • Also known as: CMSTA1, GFA, GFAT, GFAT 1, GFAT1, GFAT1m, GFPT, GFPT1L, MSLG, GFPT1
    Summary: glutamine--fructose-6-phosphate transaminase 1

Clinical features

Help
  • Waddling gait
  • Gowers sign
  • Neck muscle weakness
  • Easy fatigability
  • Ophthalmoparesis
  • Ptosis
  • Motor delay
  • Muscle cramps
  • EMG: decremental response of compound muscle action potential (CMAP) to repetitive nerve stimulation
  • Fatigable weakness
  • Proximal amyotrophy
  • Mildly elevated creatine phosphokinase
  • Facial palsy
Show all (13)

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Write to the Help Desk