IllnessTibial muscular dystrophy, differential diagnosis

NGS +

Tibial muscular dystrophy affects these leg muscles, and symptoms usually appear after the age of 30. Initial signs are usually weakness and atrophy of the tibialis anterior with difficulty in heel gait without significantly affecting normal walking. Muscle weakness increases very slowly, but 10-20 years after the onset of symptoms, the long toe extensors also become weaker. Lateron, one-third of patients have mild to moderate problems with walking in general. Very few affected individuals have generalized muscle weakness, atrophy of the quadriceps or other leg muscles as well as of those of the arms already in childhood. The defective protein Titin also plays an important role in the heart muscle. Certain mutations in the particularly large TTN gene cause tibial muscular dystrophy; it is inherited in an autosomal dominant manner. The detailed differential diagnosis includes more than a dozen other genes. Nevertheless, a negative molecular genetic test result does not exclude the clinical diagnosis.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1323/

• Alias: Distal anoctaminopathy (ANO5)
• Alias: Tardive tibial muscular dystrophy
• Alias: Tibial Muscular Dystrophy
• Alias: Udd Distal Myopathy
• Alias: Udd myopathy
• Alias: Udd-Markesbery muscular dystrophy
• 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)