GTR Home > Conditions/Phenotypes > Limb-girdle muscular dystrophy-dystroglycanopathy, type C5

Summary

MDGDC5 is an autosomal recessive muscular dystrophy characterized by variable age at onset, normal cognition, and no structural brain changes (Brockington et al., 2001). It is part of a group of similar disorders resulting from defective glycosylation of DAG1 (128239), collectively known as 'dystroglycanopathies' (Mercuri et al., 2006). For a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type C, see MDDGC1 (609308). [from OMIM]

Available tests

34 tests are in the database for this condition. Compare labs offering these tests.

Check Associated genes for additional relevant tests.

Associated genes

Clinical features

Help
  • Waddling gait
  • Difficulty climbing stairs
  • Difficulty walking
  • Achilles tendon contracture
  • Pelvic girdle muscle weakness
  • Impaired left ventricular function
  • Frequent falls
  • Calf muscle hypertrophy
  • Nocturnal hypoventilation
  • Kyphosis
  • Thigh hypertrophy
  • Exercise-induced myoglobinuria
  • Myalgia
  • Macroglossia
  • Dilated cardiomyopathy
  • Restrictive respiratory insufficiency
  • Scoliosis
  • Vertebral fusion
  • Elevated serum creatine phosphokinase
  • Hyperlordosis
  • Muscle cramps
  • Shoulder girdle muscle weakness
  • Proximal muscle weakness
  • Congenital muscular dystrophy
Show all (24)

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