Klinische FragestellungMyopathie, distal; Differentialdiagnose

NGS +

{Sanger]

Muskelerkrankungen, mit klinischem Muster einer vorherrschenden Schwäche + beginnender Atrophie in den Füßen und/oder Händen

• Alias: Distal muscular dystrophy
• Alias: Distal myopathy
• Allelic: Amyotrophic lateral sclerosis 14, with/-out frontotemporal dementia (VCP)
• Allelic: Androgen insensitivity (AR)
• Allelic: Androgen insensitivity, partial, with/-out breast cancer (AR)
• Allelic: Cardiomyopathy, dilated, 1AA, with/-out LVNC (ACTN2)
• Allelic: Cardiomyopathy, dilated, 1S (MYH7)
• Allelic: Cardiomyopathy, hypertrophic, 1 (MYH7)
• Allelic: Cardiomyopathy, hypertrophic, 23, with/-out LVNC (ACTN2)
• Allelic: Charcot-Marie-Tooth disease, type 2Y (VCP)
• Allelic: Hypospadias 1, XL (AR)
• Allelic: King-Denborough syndrome (RYR1)
• Allelic: Left ventricular noncompaction 5 (MYH7)
• Allelic: Malignant hyperthermia susceptibility 1 (RYR1)
• Allelic: Myopathy, congenital with structured cores + Z-line abnormalities (ACTN2)
• Amyotrophic lateral sclerosis 21 (MATR3)
• Bethlem myopathy 2 (COL12A1)
• CAP myopathy 1 (TPM3)
• CAP myopathy 2 (TPM2)
• Central core disease (RYR1)
• Centronuclear myopathy 1 (DNM2)
• Deafness, XL 4 (SMPX)
• Facioscapulohumeral muscular dystrophy 3, digenic (LRIF1)
• Inclusion body myopathy with early-onset Paget disease + frontotemporal dementia 1 (VCP)
• Laing distal myopathy (MYH7)
• Minicore myopathy with external ophthalmoplegia (RYR1)
• Miyoshi muscular dystrophy 1 (DYSF)
• Miyoshi muscular dystrophy 3 (ANO5)
• Muscular dystrophy, AR, with rigid spine + distal joint contractures (TOR1AIP1)
• Muscular dystrophy, limb-girdle, AD 1 (DNAJB6)
• Muscular dystrophy, limb-girdle, AR (TTN)
• Muscular dystrophy, limb-girdle, AR 2 (DYSF)
• Muscular dystrophy, limb-girdle, AR 7 (TCAP)
• Myopathy, XL, with postural muscle atrophy (FHL1)
• Myopathy, actin, congenital, with cores (ACTA1)
• Myopathy, actin, congenital, with excess of thin myofilaments (ACTA1)
• Myopathy, congenital, with fiber-type disproportion (TPM3)
• Myopathy, congenital, with fiber-type disproportion 1 (ACTA1)
• Myopathy, distal, 4 (FLNC)
• Myopathy, distal, 5 (ADSS1 syn. ADSSL1)
• Myopathy, distal, 6, adult onset (ACTN2)
• Myopathy, distal, 7, adult-onset, XL (SMPX)
• 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, 5 (FLNC)
• Myopathy, myofibrillar, 6 (BAG3)
• Myopathy, myofibrillar, 9, with early respiratory failure (TTN)
• Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related (CRYAB)
• Myopathy, myosin storage, AD or AR (MYH7)
• Myopathy, scapulohumeroperoneal (ACTA1)
• Myopathy, spheroid body (MYOT)
• Nemaline myopathy 1, AD or AR (TPM3)
• Nemaline myopathy 10 (LMOD3)
• Nemaline myopathy 11, AR (MYPN)
• Nemaline myopathy 2, AR (NEB)
• Nemaline myopathy 3, AD or AR (ACTA1)
• Nemaline myopathy 4, AD (TPM2)
• Nemaline myopathy 5, Amish type (TNNT1)
• Nemaline myopathy 6, AD (KBTBD13)
• Nemaline myopathy 7, AR (CFL2)
• Nemaline myopathy 8, AR (KLHL40)
• Nemaline myopathy 9 (KLHL41)
• Neuromuscular disease, congenital, with uniform type 1 fiber (RYR1)
• Neuronopathy, distal hereditary motor, type IIA (HSPB8)
• Neuronopathy, distal hereditary motor, type IIB (HSPB1)
• Nonaka myopathy (GNE)
• Peripheral neuropathy, myopathy, hoarseness, and hearing loss (MYH14)
• Reducing body myopathy, XL 1a, severe, infantile or early childhood onset (FHL1)
• Reducing body myopathy, XL 1b, with late childhood or adult onset (FHL1)
• Rippling muscle disease 2 (CAV3)
• Salih myopathy (TTN)
• Scapuloperoneal myopathy, XLD (FHL1)
• Scapuloperoneal syndrome, myopathic type (MYH7)
• Scapuloperoneal syndrome, neurogenic, Kaeser type (DES)
• Spinal and bulbar muscular atrophy of Kennedy (AR_CAG)
• Spinal muscular atrophy, distal, AR, 5 (DNAJB2)
• Tibial muscular dystrophy, tardive (TTN)
• Ullrich congenital muscular dystrophy 2 (COL12A1)
• Welander distal myopathy (TIA1)