ErkrankungTibiale Muskeldystrophie, Differentialdiagnose

NGS +

• Alias: Distal anoctaminopathy (ANO5)
• Alias: Tibial Muscular Dystrophy
• Alias: Udd Distal Myopathy
• Allelic: Bosma arhinia microphthalmia syndrome (SMCHD1)
• Allelic: Cardiomyopathy, dilated, 1AA, with/-out LVNC (ACTN2)
• Allelic: Cardiomyopathy, dilated, 1C, with/-out LVNC (LDB3)
• Allelic: Cardiomyopathy, dilated, 1G (TTN)
• Allelic: Cardiomyopathy, dilated, 1I (DES)
• Allelic: Cardiomyopathy, dilated, 1II (CRYAB)
• Allelic: Cardiomyopathy, dilated, 1S (MYH7)
• Allelic: Cardiomyopathy, familial hypertrophic (CAV3)
• Allelic: Cardiomyopathy, familial hypertrophic, 26 (FLNC)
• Allelic: Cardiomyopathy, familial hypertrophic, 9 (TTN)
• Allelic: Cardiomyopathy, familial restrictive 5 (FLNC)
• Allelic: Cardiomyopathy, hypertrophic, 1 (MYH7)
• Allelic: Cardiomyopathy, hypertrophic, 23, with/-out LVNC (ACTN2)
• Allelic: Cardiomyopathy, hypertrophic, 24 (LDB3)
• Allelic: Cataract 16, multiple types (CRYAB)
• Allelic: Charcot-Marie-Tooth disease, type 2Y (VCP)
• Allelic: Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (SQSTM1)
• Allelic: Gnathodiaphyseal dysplasia (ANO5)
• Allelic: Left ventricular noncompaction 3 (LDB3)
• Allelic: Left ventricular noncompaction 5 (MYH7)
• Allelic: Long QT syndrome 9 (CAV3)
• Allelic: Muscular dystrophy, limb-girdle, AR 10 (TTN)
• Allelic: Muscular dystrophy, limb-girdle, AR 12 (ANO5)
• Allelic: Muscular dystrophy, limb-girdle, AR 2 (DYSF)
• Allelic: Myopathy, congenital with structured cores + Z-line abnormalities (ACTN2)
• Allelic: Myopathy, myofibrillar, 5 (FLNC)
• Allelic: Myopathy, myofibrillar, 9, with early respiratory failure (TTN)
• Allelic: Myopathy, myosin storage, AR (MYH7)
• Allelic: Neurodegeneration with ataxia, dystonia + gaze palsy, childhood-onset (SQSTM1)
• Allelic: Paget disease of bone 3 (SQSTM1)
• Allelic: Rippling muscle disease 2 (CAV3)
• Allelic: Salih myopathy (TTN)
• Allelic: Scapuloperoneal syndrome, myopathic type (MYH7)
• Allelic: Scapuloperoneal syndrome, neurogenic, Kaeser type (DES)
• Allelic: Sialuria (GNE)
• Amyotrophic lateral sclerosis 21 (MATR3)
• Amyotrophic lateral sclerosis 26 with/-out frontotemporal dementia (TIA1)
• Creatine phosphokinase, elevated serum (CAV3)
• Facioscapulohumeral muscular dystrophy 1 + 2 (DUX4 macrosatellite contractions)
• Fascioscapulohumeral muscular dystrophy 2, digenic (SMCHD1)
• Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (VCP)
• Inclusion body myopathy with early-onset Paget disease + frontotemporal dementia 1 (VCP)
• Laing distal myopathy (MYH7)
• Miyoshi muscular dystrophy 1 (DYSF)
• Miyoshi muscular dystrophy 3 (ANO5)
• Myopathy, distal, 4 (FLNC)
• Myopathy, distal, 6, adult onset (ACTN2)
• Myopathy, distal, Tateyama type (CAV3)
• Myopathy, distal, with anterior tibial onset (DYSF)
• Myopathy, distal, with rimmed vacuoles (SQSTM1)
• Myopathy, myofibrillar, 1 (DES)
• Myopathy, myofibrillar, 2 (CRYAB)
• Myopathy, myofibrillar, 3 (MYOT)
• Myopathy, myofibrillar, 4 (LDB3)
• Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related (CRYAB)
• Myopathy, spheroid body (MYOT)
• Nemaline myopathy 2, AR (NEB)
• Nonaka myopathy (GNE)
• Tibial muscular dystrophy, tardive (TTN)
• Welander distal myopathy (TIA1)