Klinische FragestellungDysferlinopathie, Differentialdiagnose

NGS +

Dysferlinopathien umfassen ein Spektrum autosomal-rezessiv vererbter Muskelerkrankungen, die durch zwei Hauptphänotypen (Miyoshi-Muskeldystrophie [MMD] und Gliedergürtel-Muskeldystrophie Typ 2B [LGMD2B]) und zwei Nebenphänotypen (asymptomatische HyperCKämie und distale Myopathie mit anteriorem Tibia-Beginn [DMAT]) gekennzeichnet sind. Die Haupt- und Nebenphänotypen können innerhalb von Familien mit denselben pathogenen Varianten auftreten. Die Schwäche und Atrophie können bei jedem dieser Krankheitsbilder asymmetrisch sein. Die Diagnose einer Dysferlinopathie wird bei einem Probanden mit suggestiven Befunden und biallelischen pathogenen Varianten in DYSF gestellt, die durch molekulargenetische Tests identifiziert wurden. Differentialdiagnose: Die Dysferlinopathien müssen von anderen autosomal-rezessiven Gliedergürtel-Muskeldystrophien, den Dystrophinopathien und den distalen Myopathien unterschieden werden.

Literatur: https://www.ncbi.nlm.nih.gov/books/NBK1303/

• Alias: Distale Myopathie des vorderen Kompartiments (DYSF)
• Alias: Distale Myopathie mit Beginn am vorderen Schienenbein (DYSF)
• Allelic: Bardet-Biedl syndrome 11 (TRIM32)
• Allelic: Cardiomyopathy, dilated, 1C, with/-out LVNC (LDDB3)
• Allelic: Cardiomyopathy, dilated, 1G (TTN)
• Allelic: Cardiomyopathy, dilated, 1L (SGCD)
• Allelic: Cardiomyopathy, dilated, 1S (MYH7)
• Allelic: Cardiomyopathy, dilated, 1X (FKTN)
• Allelic: Cardiomyopathy, dilated, 3B (DMD)
• Allelic: Cardiomyopathy, familial hypertrophic, 9 (TTN)
• Allelic: Cardiomyopathy, hypertrophic, 1 (MYH7)
• Allelic: Cardiomyopathy, hypertrophic, 24 (LDB3)
• Allelic: Cardiomyopathy, hypertrophic, 25 (TCAP)
• Allelic: Dowling-Degos disease 4 (POGLUT1)
• Allelic: Dystonia 27 (COL6A3)
• Allelic: Epidermolysis bullosa simplex 5A, Ogna type (PLEC)
• Allelic: Epidermolysis bullosa simplex 5B, with muscular dystrophy (PLEC)
• Allelic: Epidermolysis bullosa simplex 5C, with pyloric atresia (PLEC)
• Allelic: Epidermolysis bullosa simplex 5D, generalized intermediate, AR (PLEC)
• Allelic: Epidermolysis bullosa simplex with muscular dystrophy (PLEC)
• Allelic: Epidermolysis bullosa simplex with pyloric atresia (PLEC)
• Allelic: Epidermolysis bullosa simplex, Ogna type (PLEC)
• Allelic: Gnathodiaphyseal dysplasia (ANO5)
• Allelic: Left ventricular noncompaction 3 (LDB3)
• Allelic: Left ventricular noncompaction 5 (MYH7)
• Allelic: Miyoshi muscular dystrophy 1 (DYSF)
• Allelic: Miyoshi muscular dystrophy 3 (ANO5)
• Allelic: Miyoshi-Myopathie [Schwäche hinteres Kompartiment distale untere Extremität] (DYSF)
• Allelic: Muscular dystrophy, limb-girdle, AD 4 (CAPN3)
• Allelic: Muscular dystrophy, limb-girdle, AR 10 (TTN)
• Allelic: Muscular dystrophy, limb-girdle, AR 2 (DYSF)
• Allelic: Muscular dystrophy-dystroglycanopathy cong. with brain + eye anomalies type A, 1 (POMT1)
• Allelic: Muscular dystrophy-dystroglycanopathy cong. with brain + eye anomalies type A, 2 (POMT2)
• Allelic: Muscular dystrophy-dystroglycanopathy cong. with brain + eye anomalies, type A, 3 (POMGNT1)
• Allelic: Muscular dystrophy-dystroglycanopathy cong. with brain + eye anomalies, type A, 5 (FKRP)
• Allelic: Muscular dystrophy-dystroglycanopathy cong. with brain + eye anomalies, type A, 7 (CRPPA)
• Allelic: Muscular dystrophy-dystroglycanopathy cong. with brain + eye anomalies, type A, 8 (POMGNT2)
• Allelic: Muscular dystrophy-dystroglycanopathy cong. with mental retard. type B, 1 (POMT1)
• Allelic: Muscular dystrophy-dystroglycanopathy cong. with mental retard. type B, 2 (POMT2)
• Allelic: Muscular dystrophy-dystroglycanopathy cong. with mental retard. type B, 3 (POMGNT1)
• Allelic: Muscular dystrophy-dystroglycanopathy cong. with/-out mental retard. type B, 5 (FKRP)
• Allelic: Muscular dystrophy-dystroglycanopathy with brain + eye anomalies (FKTN)
• Allelic: Muscular dystrophy-dystroglycanopathy without mental retardation (FKTN)
• Allelic: Myopathy, distal, with anterior tibial onset (DYSF)
• Allelic: Myopathy, myofibrillar, 9, with early respiratory failure (TTN)
• Allelic: Myosclerosis, congenital (COL6A2)
• Allelic: Retinitis pigmentosa 76 (POMGNT1)
• Allelic: Sialuria (GNE)
• Allelic: Tibial muscular dystrophy, tardive (TTN)
• Amyotrophic lateral sclerosis 21 (MATR3)
• Amyotrophic lateral sclerosis 26 with/-out frontotemporal dementia (TIA1)
• Becker muscular dystrophy (DMD)
• Bethlem myopathy 1 (COL6A1, COL6A2, COL6A3)
• Duchenne muscular dystrophy (DMD)
• Laing distal myopathy (MYH7)
• Miyoshi muscular dystrophy 1 (DYSF)
• Miyoshi muscular dystrophy 3 (ANO5)
• Muscular dystrophy, AR, with cardiomyopathy + triangular tongue (LIMS2)
• Muscular dystrophy, AR, with rigid spine + distal joint contractures (TORAIP1)
• Muscular dystrophy, limb girdle, "LGMD2T" (DOK7)
• Muscular dystrophy, limb-girdle, AD 4 (CAPN3)
• Muscular dystrophy, limb-girdle, AR 1 (CAPN3)
• Muscular dystrophy, limb-girdle, AR 10 (TTN)
• Muscular dystrophy, limb-girdle, AR 12 (ANO5)
• Muscular dystrophy, limb-girdle, AR 17 (PLEC)
• Muscular dystrophy, limb-girdle, AR 18 (TRAPPC11)
• Muscular dystrophy, limb-girdle, AR 2 (DYSF)
• Muscular dystrophy, limb-girdle, AR 21 (POGLUT1)
• Muscular dystrophy, limb-girdle, AR 23 (LAMA2)
• Muscular dystrophy, limb-girdle, AR 25 (BVES)
• Muscular dystrophy, limb-girdle, AR 26 (POPDC3)
• Muscular dystrophy, limb-girdle, AR 27 (JAG2)
• Muscular dystrophy, limb-girdle, AR 3 (SGCA)
• Muscular dystrophy, limb-girdle, AR 4 (SGCB)
• Muscular dystrophy, limb-girdle, AR 5 (SGCG)
• Muscular dystrophy, limb-girdle, AR 6 (SGCD)
• Muscular dystrophy, limb-girdle, AR 7 (TCAP)
• Muscular dystrophy, limb-girdle, AR 8 (TRIM32)
• Muscular dystrophy-dystroglycanopathy limb-girdle type C, 1 (POMT1)
• Muscular dystrophy-dystroglycanopathy limb-girdle type C, 2 (POMT2)
• Muscular dystrophy-dystroglycanopathy limb-girdle type C, 3 (POMGNT1)
• Muscular dystrophy-dystroglycanopathy limb-girdle type C, 4 (FKTN)
• Muscular dystrophy-dystroglycanopathy limb-girdle type C, 5 (FKRP)
• Muscular dystrophy-dystroglycanopathy limb-girdle type C, 7 (ISPD)
• Muscular dystrophy-dystroglycanopathy limb-girdle type C, 8 (POMGNT2)
• Muscular dystrophy-dystroglycanopathy limb-girdle, type C, 5 (FKRP)
• Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 14 (GMPPB)
• Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 5 (FKRP)
• Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 7 (CRPPA)
• Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 9 (DAG1)
• Muscular dystrophy-dystroglycanopathy, cong. with mental retardation, type B, 14 (GMPPB)
• Muscular dystrophy-dystroglycanopathy, cong. with/-out mental retardation, type B, 5 (FKRP)
• Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 14 (GMPPB)
• Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 7 (CRPPA)
• Muscular dystrophy-dystroglycanopathy, limb-girdle, type C, 9 (DAG1)
• Myopathy, distal, with anterior tibial onset (DYSF)
• Myopathy, myofibrillar, 3 (MYOT)
• Myopathy, myofibrillar, 4 (LDB3)
• Myopathy, myofibrillar, 8 (PYROXD1)
• Myopathy, myofibrillar, 9, with early respiratory failure (TTN)
• Myopathy, myosin storage, AD + AR (MYH7)
• Myopathy, spheroid body (MYOT)
• Nonaka myopathy (GNE)
• Salih myopathy (TTN)
• Scapuloperoneal syndrome, myopathic type (MYH7)
• Tibial muscular dystrophy, tardive (TTN)
• Ullrich congenital muscular dystrophy 1 (COL6A1, COL6A2, COL6A3)
• Welander distal myopathy (TIA1)