IllnessMyopathy, myofibrillary; differential diagnosis

NGS +

Skeletal + cardiac muscle disorders with disintegration of sarcomeric Z disc + myofibrils; aggregation of degradation products into intracellular inclusions, typically clinically with slowly-progressive weakness of distal muscles, highly variable, can affect proximal muscles, cardiac + respiratory muscles

DD: Myotonic dystrophy 1 + 2 (repeat expansions in DMPK + CNBP genes), Inclusion body myopathy type 2 (GNE gene), Inclusion body myositis, Dysferlinopathy (DYSF gene), Motor and sensory neuropathies, other muscular dystrophies predominantly affecting distal muscles, tibial muscular dystrophy (Udd distal myopathy; TTN gene), telethoninopathy, Laing distal myopathy (MYH7 gene), Welander's distal dystrophy (TIA1 gene), facioscapulohumeral dystrophy (D4Z4 macrosatellite repeat contraction), anoctamin-5 related muscular dystrophy, and other sporadically occurring or dominantly inherited muscular dystrophies.

• Alias: Myofibrillar myopathy [MFM]
• Allelic: Cardiomyopathy, dilated, 1C, with/-out LVNC (LDB3)
• Allelic: Cardiomyopathy, dilated, 1G (TTN)
• Allelic: Cardiomyopathy, dilated, 1HH (BAG3)
• Allelic: Cardiomyopathy, dilated, 1I (DES)
• Allelic: Cardiomyopathy, dilated, 1II (CRYAB)
• Allelic: Cardiomyopathy, familial hypertrophic, 26 (FLNC)
• Allelic: Cardiomyopathy, familial hypertrophic, 9 (TTN)
• Allelic: Cardiomyopathy, familial restrictive 5 (FLNC)
• Allelic: Cardiomyopathy, hypertrophic, 24 (LDB3)
• Allelic: Cataract 16, multiple types (CRYAB)
• Allelic: Left ventricular noncompaction 3 (LDB3)
• Allelic: Scapuloperoneal myopathy, XLD (FHL1)
• Allelic: Scapuloperoneal syndrome, neurogenic, Kaeser type (DES)
• Allelic: Uruguay faciocardiomusculoskeletal syndrome (FHL1)
• Emery-Dreifuss muscular dystrophy 6, XL (FHL1)
• Muscular dystrophy, limb-girdle, AD 1 (DNAJB6)
• Muscular dystrophy, limb-girdle, AR 10 (TTN)
• Myopathy, XL, with postural muscle atrophy (FHL1)
• Myopathy, distal, 4 (FLNC)
• Myopathy, myofibrillar, 1 (DES)
• Myopathy, myofibrillar, 2 (CRYAB)
• Myopathy, myofibrillar, 3 (MYOT)
• Myopathy, myofibrillar, 4 (LDB3)
• Myopathy, myofibrillar, 5 (FLNC)
• Myopathy, myofibrillar, 6 (BAG3)
• Myopathy, myofibrillar, 7 (KY)
• Myopathy, myofibrillar, 8 (PYROXD1)
• Myopathy, myofibrillar, 9, with early respiratory failure (TTN)
• Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related (CRYAB)
• Myopathy, spheroid body (MYOT)
• Reducing body myopathy, XL 1a, severe, infantile or early childhood onset (FHL1)
• Reducing body myopathy, XL 1b, late childhood or adult onset (FHL1)
• Salih myopathy (TTN)
• Tibial muscular dystrophy, tardive (TTN)