Table 3.

Differential Diagnosis of CHKB-Related Muscular Dystrophy: Muscular Dystrophies Associated with Neurobehavioral Disorders

GeneDisorderMOIFeatures of Differential Diagnosis
Similar to CHKB-MDDistinguishing from CHKB-MD
B3GALNT2 1
GMPPB 2
POMGNT1 3		Alpha-dystroglycanopathy (muscle-eye-brain disease; Walker-Warburg syndrome)AR
  • Muscle weakness due to muscular dystrophy
  • ASD, cognitive impairment, & epilepsy are common.
  • Structural eye & brain malformations
  • Moderately ↑ CK
  • Muscle biopsy shows loss of alpha-dystroglycan protein.
DMD Duchenne muscular dystrophy 4 (See Dystrophinopathies.)XL
  • Muscle weakness due to muscular dystrophy
  • Language delay, DD, ASD, & ADHD are common.
  • Epilepsy can occur.
  • Dilated cardiomyopathy is common (although onset occurs in adolescence or early adulthood).
  • Skeletal muscle weakness progresses more rapidly.
  • Much higher CK levels
  • Muscle biopsy shows loss of dystrophin protein.
DMPK Myotonic dystrophy type 1 (congenital & classic DM1)AD
  • Significant hypotonia w/weakness
  • ASD & cognitive impairment are common.
Weakness improved w/age in congenital DM1.

AD = autosomal dominant; ADHD = attention-deficit/hyperactivity disorder; AR = autosomal recessive; ASD = autism spectrum disorder; CK = creatine kinase; CMD = congenital muscular dystrophy; DD = developmental delay; DM1 = myotonic dystrophy type 1; MOI = mode of inheritance; XL = X-linked

1.
2.
3.

OMIM 606822

4.

From: CHKB-Related Muscular Dystrophy

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