GTR Home > Conditions/Phenotypes > Limb-girdle muscular dystrophy, type 1B

Disease characteristics

Excerpted from the GeneReview: Limb-Girdle Muscular Dystrophy Overview
Limb-girdle muscular dystrophy (LGMD) is a purely descriptive term, generally reserved for childhood- or adult-onset muscular dystrophies that are distinct from the much more common X-linked dystrophinopathies. LGMDs are typically nonsyndromic, with clinical involvement typically limited to skeletal muscle. Individuals with LGMD generally show weakness and wasting restricted to the limb musculature, proximal greater than distal, and muscle degeneration/regeneration on muscle biopsy. Most individuals with LGMD show relative sparing of the bulbar muscles, although exceptions occur, depending on the genetic subtype. Onset, progression, and distribution of the weakness and wasting vary considerably among individuals and genetic subtypes.

Associated genes

  • Also known as: RP11-54H19.1, CDCD1, CDDC, CMD1A, CMT2B1, EMD2, FPL, FPLD, FPLD2, HGPS, IDC, LDP1, LFP, LGMD1B, LMN1, LMNC, LMNL1, PRO1, LMNA
    Summary: lamin A/C

Clinical features

Help
  • Difficulty climbing stairs
  • Difficulty walking
  • Pelvic girdle muscle weakness
  • Muscular dystrophy
  • Sudden cardiac death
  • Bradycardia
  • Flexion contracture
  • Dilated cardiomyopathy
  • Primary atrial arrhythmia
  • Elevated serum creatine phosphokinase
  • EMG: myopathic abnormalities
  • Shoulder girdle muscle weakness
  • Abnormal atrioventricular conduction
  • Pelvic girdle amyotrophy
Show all (14)

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