IllnessEmery-Dreifuss muscular dystrophy, differential diagnosis

NGS + [X]

Emery-Dreifuss muscular dystrophy mainly affects the skeletal and cardiac muscles. In early childhood, joint contractures (elbows, ankles, neck) are already usually noticeable. Most patients suffer from muscle weakness and wasting that slowly worsens over time, starting in the upper arms and lower legs. Almost all affected individuals develop cardiac problems in adulthood. Many cases involve conduction disturbances and arrhythmias, bradycardia, syncopes or heart failure with increased risk of sudden death. The inheritance patterns are X-linked, autosomal dominant and recessive. A few patients with the autosomal dominant form have cardiac problems without weakness or wasting of skeletal muscles. Mutations mainly in the LMNA, EMD and FHL1 genes cause this disorder. The diagnostic yield is usually <50% for the aforementioned three genes. Therefore, a negative molecular genetic result does not exclude the clinical diagnosis.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1436/

• Sympt.: Infantile joint contractures; slowly progressive humero-peroneal muscle weakness/wasting
• Allelic: Arrhythmogenic right ventricular dysplasia 5 (TMEM43)
• Allelic: Arthrogryposis multiplex congenita 3, myogenic type (SYNE1)
• Allelic: Cardiomyopathy, dilated, 1A (LMNA)
• Allelic: Charcot-Marie-Tooth disease, type 2B1 (LMNA)
• Allelic: Heart-hand syndrome, Slovenian type (LMNA)
• Allelic: Hutchinson-Gilford progeria (LMNA)
• Allelic: Lipodystrophy, familial partial, type 2 (LMNA)
• Allelic: Malouf syndrome (LMNA)
• Allelic: Mandibuloacral dysplasia (LMNA)
• Allelic: Muscular dystrophy, congenital (LMNA)
• Allelic: Myopathy, XL, with postural muscle atrophy (FHL)
• Allelic: Reducing body myopathy, XL 1a, severe, infantile or early childhood onset (FHL1)
• Allelic: Reducing body myopathy, XL 1b, with late childhood or adult onset (FHL1)
• Allelic: Restrictive dermopathy, lethal (LMNA)
• Allelic: Spinocerebellar ataxia, AR 8 (SYNE1)
• Allelic: Uruguay faciocardiomusculoskeletal syndrome (FHL1)
• Bethlem myopathy 1 (COL6A1, COL6A2, COL6A3)
• Danon disease (LAMP2)
• Duchenne/Becker muscular dystrophy (DMD)
• Emery-Dreifuss muscular dystrophy 2, AD (LMNA)
• Emery-Dreifuss muscular dystrophy 3, AR (LMNA)
• Emery-Dreifuss muscular dystrophy 4, AD (SYNE1)
• Emery-Dreifuss muscular dystrophy 5, AD (SYNE2)
• Emery-Dreifuss muscular dystrophy 6, XL (FHL1)
• Emery-Dreifuss muscular dystrophy 7, AD (TMEM43)
• Facioscapulohumeral Muscular Dystrophy (DNMT3B, D4Z4)
• Fascioscapulohumeral muscular dystrophy 2, digenic (SMCHD1)
• Glycogen storage disease II (GAA)
• Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (DNMT3B)
• Laing distal myopathy (MYH7)
• Muscular dystrophy, congenital, merosin deficient or partially deficient (LAMA2)
• Muscular dystrophy, limb-girdle, AD 1 (DNAJB6)
• Muscular dystrophy, rigid spine, 1 (SELENON)
• Muscular dystrophy-dystroglycanopathy (congenital with brain + eye anomalies), type A, 5 (FKRP)
• Muscular dystrophy-dystroglycanopathy (congenital with/-out mental retardation), type B, 5 (FKRP)
• Myopathy, congenital, with fiber-type disproportion (SELENON)
• Myopathy, myofibrillar, 1 (DES)
• Myopathy, myofibrillar, 3 (MYOT)
• Myopathy, myofibrillar, 6 (BAG3)
• Myopathy, myofibrillar, 9, with early respiratory failure (TTN)
• Myopathy, myosin storage, AD (MYH7)
• Myopathy, myosin storage, AR (MYH7)
• Myopathy, spheroid body (MYOT)
• Myotonic dystrophy 1 (DMPK)
• Myotonic dystrophy 2 (CNBP)
• Salih myopathy (TTN)
• Scapuloperoneal myopathy, XLD (FHL1)
• Scapuloperoneal spinal muscular atrophy (TRPV4)
• Scapuloperoneal syndrome, myopathic type (MYH7)
• Scapuloperoneal syndrome, neurogenic, Kaeser type (DES)
• Tibial muscular dystrophy, tardive (TTN)
• Ullrich congenital muscular dystrophy 1 (COL6A1, COL6A2, COL6A3)