Table 4.

Differential Diagnosis of CHKB-Related Muscular Dystrophy: Limb-Girdle Muscular Dystrophies Associated with Cardiomyopathy

GeneDiseaseMOIFeatures of Differential Diagnosis
Similar to CHKB-MD 1Distinguishing from CHKB-MD
DMD Becker muscular dystrophy (See Dystrophinopathies.)XLDilated cardiomyopathy (usually w/onset in adolescence or early adulthood) is common.
  • Moderately ↑ CK
  • Cognition is generally spared.
  • Muscle biopsy shows loss of dystrophin protein.
DPM3 DPM3-related alpha-dystroglycanopathy (OMIM 612937)ARDilated cardiomyopathy (usually in late teens or adulthood) is common.
  • Moderately ↑ CK.
  • Abnormal N-glycosylation of serum proteins 2
  • Muscle biopsy shows loss of alpha-dystroglycan protein.
FKRP FKRP-related alpha-dystroglycanopathy 3ARDilated cardiomyopathy (usually adult onset) is common.
  • Moderately ↑ CK
  • Muscle biopsy shows absent alpha-dystroglycan protein.
LAMA2 Late-onset LAMA2 muscular dystrophyAREpilepsy & dilated cardiomyopathy may occur.
  • Moderately ↑ CK
  • White matter changes on brain MRI
  • Muscle biopsy shows loss of merosin protein.
LMNA LMNA-related dystrophy
(See Emery-Dreifuss Muscular Dystrophy.)		ADDilated cardiomyopathy is common.Moderately ↑ CK
TTN TTN-related LGMD 4ARDilated cardiomyopathyMildly to moderately ↑ CK

AD = autosomal dominant; AR = autosomal recessive; LGMD = limb-girdle muscular dystrophy; MOI = mode of inheritance; XL = X-linked

1.

In addition to limb-girdle muscle weakness

2.
3.
4.

From: CHKB-Related Muscular Dystrophy

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