Klinische FragestellungMuskeldystrophie, kongenital; erweiterte Differentialdiagnose

NGS +

illness_ClinicalComment_MP9928

• Alias: Congenital muscular dystrophy due to laminin alpha2 deficiency (LAMA2)
• Alias: Congenital muscular dystrophy type 1A (LAMA2)
• Alias: Laminin subunit alpha 2-related congenital muscular dystrophy (LAMA2)
• Alias: Merosin-negative congenital muscular dystrophy (LAMA2)
• Alias: Muskeldystrophie, kongenitale, Merosin-negativ (LAMA2)
• Alias: Muskeldystrophie, kongenitale, durch Laminin-alpha 2-Mangel (LAMA2)
• Alias: Santavuori congenital muscular dystrophy (POMGNT1)
• Alias: Walker-Warburg syndrome (POMT1)
• Allelic: Becker muscular dystrophy (DMD)
• Allelic: Cardiomyopathy, dilated, 1A (LMNA)
• Allelic: Cardiomyopathy, dilated, 1X (FKTN)
• Allelic: Cardiomyopathy, dilated, 3B (DMD)
• Allelic: Charcot-Marie-Tooth disease, axonal type 2M (DNM2)
• Allelic: Charcot-Marie-Tooth disease, dominant intermediate B (DNM2)
• Allelic: Charcot-Marie-Tooth disease, type 2B1 (LMNA)
• Allelic: Dystonia 27 (COL6A3)
• Allelic: Emery-Dreifuss muscular dystrophy 2, AD (LMNA)
• Allelic: Emery-Dreifuss muscular dystrophy 3, AR (LMNA)
• Allelic: Emery-Dreifuss muscular dystrophy 6, XL (FHL1)
• Allelic: Epidermolysis bullosa simplex 5A, Ogna type (PLEC)
• Allelic: Epidermolysis bullosa simplex 5C, with pyloric atresia (PLEC)
• Allelic: Epidermolysis bullosa simplex 5D, generalized intermediate, AR (PLEC)
• Allelic: Heart-hand syndrome, Slovenian type (LMNA)
• Allelic: Hutchinson-Gilford progeria (LMNA)
• Allelic: King-Denborough syndrome (RYR1)
• Allelic: Lipodystrophy, familial partial, type 2 (LMNA)
• Allelic: Malignant hyperthermia susceptibility 1 (RYR1)
• Allelic: Malouf syndrome (LMNA)
• Allelic: Mandibuloacral dysplasia (LMNA)
• Allelic: Minicore myopathy with external ophthalmoplegia (RYR1)
• Allelic: Muscular dystrophy, limb-girdle, AR 23 (LAMA2)
• Allelic: Muscular dystrophy, rigid spine, 1 (SELENON)
• Allelic: Muscular dystrophy-dystroglycanopathy [limb-girdle], type C, 1 (POMT1)
• Allelic: Muscular dystrophy-dystroglycanopathy [limb-girdle], type C, 14 (GMPPB)
• Allelic: Muscular dystrophy-dystroglycanopathy [limb-girdle], type C, 2 (POMT2)
• Allelic: Muscular dystrophy-dystroglycanopathy [limb-girdle], type C, 3 (POMGNT1)
• Allelic: Muscular dystrophy-dystroglycanopathy [limb-girdle], type C, 4 (FKTN)
• Allelic: Muscular dystrophy-dystroglycanopathy [limb-girdle], type C, 5 (FKRP)
• Allelic: Muscular dystrophy-dystroglycanopathy [limb-girdle], type C, 7 (CRPPA)
• Allelic: Muscular dystrophy-dystroglycanopathy [limb-girdle], type C, 9 (DAG1)
• Allelic: Myopathy, scapulohumeroperoneal (ACTA1)
• Allelic: Myosclerosis, congenital (COL6A2)
• Allelic: Reducing body myopathy, XL 1b, with late childhood or adult onset (FHL1)
• Allelic: Restrictive dermopathy, lethal (LMNA)
• Allelic: Retinitis pigmentosa 76 (POMGNT1)
• Allelic: Scapuloperoneal myopathy, XLD (FHL1)
• Allelic: Spinocerebellar ataxia, AR 8 (SYNE1)
• Allelic: Split-foot malformation with mesoaxial polydactyly (MAP3K20)
• Allelic:Emery-Dreifuss muscular dystrophy 4, AD (SYNE1)
• Arthrogryposis multiplex congenita 3, myogenic type (SYNE1)
• Arthrogryposis multiplex congenita 6 (NEB)
• Arthrogryposis, distal, type 1A + 2B4 (TPM2)
• Bethlem myopathy 1 (COL6A1, COL6A2, COL6A3)
• Bethlem myopathy 2 (COL12A1)
• CAP myopathy 1 (TPM3)
• CAP myopathy 2 (TPM2)
• Carey-Fineman-Ziter syndrome [cong. myopathy +Moebius- + Robin sequences] (MYMK)
• Central core disease (RYR1)
• Centronuclear myopathy 1 (DNM2)
• Centronuclear myopathy 2 (BIN1)
• Centronuclear myopathy 4 (CCDC78)
• Centronuclear myopathy 5 (SPEG)
• Centronuclear myopathy 6 with fiber-type disproportion (MAP3K20)
• Centronuclear myopathy, autosomal, modifier of (MTMR14)
• Congenital disorder of glycosylation, type Im (DOLK)
• Congenital disorder of glycosylation, type Iu (DPM2)
• Duchenne muscular dystrophy (DMD)
• Epidermolysis bullosa simplex 5B, with muscular dystrophy (PLEC)
• Fetal akinesia deformation sequence 2 (RAPSN)
• Fetal akinesia deformation sequence 3 (DOK7)
• Kollagen-VI-Muskeldystrophie (COL12A1)
• Lethal congenital contracture syndrome 5 (DNM2)
• Marinesco-Sjogren syndrome [cong. cataracts, myopathy, hypotonia, ID, hyperg. hypogonadism] (SIL1)
• Muscular dystrophy, congenital (LMNA)
• Muscular dystrophy, congenital, due to ITGA7 deficiency (ITGA7)
• Muscular dystrophy, congenital, megaconial type (CHKB)
• Muscular dystrophy, congenital, merosin deficient or partially deficient (LAMA2)
• Muscular dystrophy, congenital, with cataracts + intellectual disability (INPP5K)
• Muscular dystrophy, limb-girdle, AR 17 (PLEC)
• Muscular dystrophy, limb-girdle, AR 18 (TRAPPC11)
• Muscular dystrophy, rigid spine, 1 (SELENON)
• Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies, type A, 10 (RXYLT1)
• Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 1 (POMT1)
• Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 11 (B3GALNT2)
• Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 13 (B4GAT1)
• Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 14 (GMPPB)
• Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 2 (POMT2)
• Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 3 (POMGNT1)
• Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 4 (FKTN)
• Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 5 (FKRP)
• Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], type A, 6 (LARGE1)
• 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 retard.], type B, 1 (POMT1)
• Muscular dystrophy-dystroglycanopathy [cong. with mental retard.], type B, 2 (POMT2)
• Muscular dystrophy-dystroglycanopathy [cong. with mental retard.], type B, 3 (POMGNT1)
• Muscular dystrophy-dystroglycanopathy [cong. with mental retard.], type B, 6 (LARGE1)
• Muscular dystrophy-dystroglycanopathy [cong. with mental retardation], type B, 14 (GMPPB)
• Muscular dystrophy-dystroglycanopathy [cong. with/-out mental retard.], type B, 5 (FKRP)
• Muscular dystrophy-dystroglycanopathy [cong. without mental retard.], type B, 4 (FKTN)
• Myasthenia, congenital, 12, with tubular aggregates (GFPT1)
• Myasthenic syndrome, congenital, 10 ((DOK7)
• Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency (RAPSN)
• Myasthenic syndrome, congenital, 4A, slow-channel (CHRNE)
• Myasthenic syndrome, congenital, 4B, fast-channel (CHRNE)
• Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency (CHRNE)
• Myasthenic syndrome, congenital, 5 (COLQ)
• Myasthenic syndrome, congenital, 6, presynaptic (CHAT)
• Myopathy with extrapyramidal signs (MICU1)
• 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 (SELENON)
• Myopathy, congenital, with fiber-type disproportion (TPM3)
• Myopathy, congenital, with fiber-type disproportion 1 (ACTA1)
• Myopathy, mitochondrial, + ataxia (MSTO1)
• Myotonic dystrophy 1 (DMPK_CTG)
• Myotubular myopathy, XL (MTM1)
• Nemaline myopathy 1, AD/AR (TPM3)
• Nemaline myopathy 10 (LMOD3)
• Nemaline myopathy 2, AR (NEB)
• Nemaline myopathy 3, AD/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)
• Neuromuscular disease, congenital, with uniform type 1 fiber (RYR1)
• Reducing body myopathy, XL 1a, severe, infantile or early childhood onset (FHL1)
• Spinal muscular atrophy-1, -2, -3, -4 (SMN1)
• Ullrich congenital muscular dystrophy 1 (COL6A1, COL6A2, COL6A3)
• Ullrich congenital muscular dystrophy 2 (COL12A1)
• Uruguay faciocardiomusculoskeletal syndrome (FHL1)