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


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

  • 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
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