Klinische FragestellungGliedergürtel-Muskeldystrophie, autosomal rezessiv; Differentialdiagnose

NGS +

Heterogene Gruppe von Muskeldystrophien mit proximaler Schwäche im Becken- + Schultergürtel; bei bestimmten Formen kardiale + respiratorische Beeinträchtigung

• Allelic: Bardet-Biedl syndrome 11 (TRIM32)
• Allelic: Cardiomyopathy, dilated, 1G (TTN)
• Allelic: Cardiomyopathy, dilated, 1L (SGCD)
• Allelic: Cardiomyopathy, dilated, 1X (FKTN)
• Allelic: Cardiomyopathy, familial hypertrophic, 9 (TTN)
• Allelic: Cardiomyopathy, hypertrophic, 25 (TCAP)
• Allelic: Dowling-Degos disease 4 (POGLUT1)
• Allelic: Epidermolysis bullosa simplex with muscular dystrophy (PLEC)
• Allelic: Epidermolysis bullosa simplex with pyloric atresia (PLEC)
• Allelic: Epidermolysis bullosa simplex, Ogna type (PLEC)
• Allelic: Fetal akinesia deformation sequence 2 (RAPSN)
• Allelic: Gnathodiaphyseal dysplasia (ANO5)
• Allelic: Miyoshi muscular dystrophy 1 (DYSF)
• Allelic: Miyoshi muscular dystrophy 3 (ANO5)
• Allelic: Muscular dystrophy, limb-girdle, AD 4 (CAPN3)
• 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, 5 (FKRP)
• Allelic: Muscular dystrophy-dystroglycanopathy cong. with brain + eye anomalies, type A, 7 (CRPPA)
• 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 cong., brain + eye anomalies, type A, 12 (POMK)
• Allelic: Muscular dystrophy-dystroglycanopathy cong., brain + eye anomalies, type A, 3 (POMGNT1)
• Allelic: Muscular dystrophy-dystroglycanopathy cong., brain + eye anomalies, type A, 8 (POMGNT2)
• 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, 8 (PYROXD1)
• Allelic: Myopathy, myofibrillar, 9, with early respiratory failure (TTN)
• Allelic: Retinitis pigmentosa 76 (POMGNT1)
• Allelic: Salih myopathy (TTN)
• Allelic: Tibial muscular dystrophy, tardive (TTN)
• Adult-onset limb girdle muscular dystrophy (PYROXD1)
• BVES-related myopathy [new nomenclature] (BVES)
• Facioscapulohumeral muscular dystrophy (LRIF1)
• LIMS2-related myopathy [new nomenclature] (LIMS2)
• Limb-GIrdle Muscular Dystrophy AR1 (CAPN3)
• Limb-GIrdle Muscular Dystrophy AR10 (TTN)
• Limb-GIrdle Muscular Dystrophy AR11 (POMT1)
• Limb-GIrdle Muscular Dystrophy AR12 (ANO5)
• Limb-GIrdle Muscular Dystrophy AR13 (FKTN)
• Limb-GIrdle Muscular Dystrophy AR14 (POMT2)
• Limb-GIrdle Muscular Dystrophy AR15 (POMGNT1)
• Limb-GIrdle Muscular Dystrophy AR16 (DAG1)
• Limb-GIrdle Muscular Dystrophy AR17 (PLEC)
• Limb-GIrdle Muscular Dystrophy AR18 (TRAPPC11)
• Limb-GIrdle Muscular Dystrophy AR19 (GMPPB)
• Limb-GIrdle Muscular Dystrophy AR2 (DYSF)
• Limb-GIrdle Muscular Dystrophy AR20 (CRPPA)
• Limb-GIrdle Muscular Dystrophy AR21 (POGLUT1)
• Limb-GIrdle Muscular Dystrophy AR22 (COL6A1, COL6A2, COL6A3)
• Limb-GIrdle Muscular Dystrophy AR23 (LAMA2)
• Limb-GIrdle Muscular Dystrophy AR24 (POMGNT2)
• Limb-GIrdle Muscular Dystrophy AR3 (SGCA)
• Limb-GIrdle Muscular Dystrophy AR4 (SGCB)
• Limb-GIrdle Muscular Dystrophy AR5 (SGCG)
• Limb-GIrdle Muscular Dystrophy AR6 (SGCD)
• Limb-GIrdle Muscular Dystrophy AR7 (TCAP)
• Limb-GIrdle Muscular Dystrophy AR8 (TRIM32)
• Limb-GIrdle Muscular Dystrophy AR9 (FKRP)
• Muscular dystrophy, AR, with cardiomyopathy + triangular tongue (LIMS2)
• Muscular dystrophy, AR, with rigid spine + distal joint contractures (TORAIP1)
• Muscular dystrophy, limb girdle, "LGMD2T" [old nomenclature] (DOK7)
• Muscular dystrophy, limb-girdle [panelapp] (RAPSN)
• Muscular dystrophy, limb-girdle, AR 1 [old nomenclature] (CAPN3)
• Muscular dystrophy, limb-girdle, AR 10 [old nomenclature] (TTN)
• Muscular dystrophy, limb-girdle, AR 12 [old nomenclature] (ANO5)
• Muscular dystrophy, limb-girdle, AR 17 [old nomenclature] (PLEC)
• Muscular dystrophy, limb-girdle, AR 18 [old nomenclature] (TRAPPC11)
• Muscular dystrophy, limb-girdle, AR 2 [old nomenclature] (DYSF)
• Muscular dystrophy, limb-girdle, AR 21 [old nomenclature] (POGLUT1)
• Muscular dystrophy, limb-girdle, AR 23 [old nomenclature] (LAMA2)
• Muscular dystrophy, limb-girdle, AR 25 [old nomenclature] (BVES)
• Muscular dystrophy, limb-girdle, AR 26 [old nomenclature] (POPDC3)
• Muscular dystrophy, limb-girdle, AR 3 [old nomenclature] (SGCA)
• Muscular dystrophy, limb-girdle, AR 4 [old nomenclature] (SGCB)
• Muscular dystrophy, limb-girdle, AR 5 [old nomenclature] (SGCG)
• Muscular dystrophy, limb-girdle, AR 6 [old nomenclature] (SGCD)
• Muscular dystrophy, limb-girdle, AR 7 [old nomenclature] (TCAP)
• Muscular dystrophy, limb-girdle, AR 8 [old nomenclature] (TRIM32)
• Muscular dystrophy-dystroglycanopathy cong. + impaired intellectual development, type B, 15 (DPM3)
• Muscular dystrophy-dystroglycanopathy limb-girdle type C, 1 (POMT1)
• Muscular dystrophy-dystroglycanopathy limb-girdle type C, 15 (DPM3)
• 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, 8 (POMGNT2)
• Muscular dystrophy-dystroglycanopathy limb-girdle, type C, 12 (POMK)
• Muscular dystrophy-dystroglycanopathy limb-girdle, type C, 7 (CRPPA syn. ISPD)
• Myofibrillar myopathy [new nomenclature] (DES)
• TOR1AIP1-related myopathy [new nomenclature] (TOR1AIP)