Table 3.

Disorders to Consider in the Differential Diagnosis of Emery-Dreifuss Muscular Dystrophy

Disorder NameGene(s)MOI 1Clinical Findings
Muscle involvementJoint contracturesCardiac diseaseDistinguishing feature(s)
Facioscapulohumeral muscular dystrophy DNMT3B
DUX4L1
SMCHD1 		AD+++ (scapulo-peroneal)––No joint contractures or cardiac disease
Other scapuloperoneal syndromes
(neurogenic & myopathic types)
(OMIM 181400, 181405, 181430, 608358, 255160)		 DES
MYH7
TRPV4 		AD
AR		+++–
(DES, MYH)		++
(DES, MYH)
  • No joint contractures (DES, MYH)
  • No cardiac disease (TRPV4)
SYNE1-related disorders
(OMIM 612998)		 SYNE1 AD±++±Unavailable (pending description of clear phenotype)
SYNE2-related disorders
(OMIM 612999)		 SYNE2 AD±_±No joint contractures
TMEM43-related myopathies
(OMIM 614302)		 TMEM43 AD+++±±Unavailable (pending description of clear phenotype)
SUN1-related disorders
(OMIM 613569)		 SUN1 AD++++–No cardiac disease
Multiminicore disease (rigid spine syndrome)
(OMIM 602771)		SELENON
(SEPN1)		AR+++++–
  • No cardiac disease
  • Early & severe respiratory failure
TTN-related myopathies
(See Salih Myopathy, Hereditary Myopathy w/Early Respiratory Failure, & Udd Distal Myopathy.)		 TTN AD
AR		++++++±
  • Variably present cardiac disease
  • Severe respiratory involvement
  • Specific muscle pathology
LAMA2-related muscular dystrophy LAMA2 AR+++++±Leukodystrophy
FKRP-related muscle diseases
(OMIM 606596)		 FKRP AR+++±±
  • Variably present cardiac disease
  • Possible CNS involvement
Collagen type VI-related Bethlem myopathy COL6A1
COL6A2
COL6A3 		AD+++++–
  • No cardiac disease
  • Specific muscle imaging pattern
Myotonic dystrophy type 1 DMPK AD+++–++
  • No joint contractures
  • Myotonia
Dystrophinopathies DMD XL+++–++No joint contractures or conduction defects / arrhythmias
Limb-girdle muscular dystrophies w/cardiac involvement>50 genes 2AR
AD		+++–++No joint contractures
Desmin-related myopathies (OMIM 601419) DES AD+++–++No joint contractures
X-linked vacuolar myopathies w/
cardiomyopathy
(OMIM 300257)		 LAMP2 XL+++–++No joint contractures
Myotonic dystrophy type 2 CNBP AD+++–++No joint contractures
Myopathy w/maltase acid deficiency GAA AR+++–++ (rare cases)
  • No joint contractures
  • Peculiar muscle pathology
BAG3-related myofibrillar myopathy
(OMIM 612954)		 BAG3 AD+++++++
  • Peculiar muscle pathology
  • Peripheral neuropathy
Ankylosing spondylitisAcquired disease–++ (spine)±No overt muscle involvement or limb joint contractures

AD = autosomal dominant; AR = autosomal recessive; CNS = central nervous system; MOI = mode of inheritance; XL = X-linked

1.

Typical MOI; exceptions occur

2.

From: Emery-Dreifuss Muscular Dystrophy

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