IllnessMyasthenes Syndrom, kongenital; Differentialdiagnose

NGS +

Congenital myasthenic syndrome is rather a group of disorders characterized by muscle weakness that worsens with physical exertion. Muscle weakness typically begins in early childhood, sometimes in adolescence or adulthood. Facial, ocular, masticatory and swallowing muscles are most commonly affected, although any skeletal muscle may be involved, resulting in difficulties with feeding and delayed development of motor skills. The severity of myasthenia varies widely. Episodes with respiratory problems may be triggered by fever or infection. The mode of inheritance is autosomal dominant or autosomal recessive. The diagnostic yields by molecular genetics range from 40-60%, depending in part on the ethnic groups involved and even more critically on the complexity of the multigene panel. Therefore, a negative DNA test result is by no means an exclusion of the clinical diagnosis.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1168/

• Alias: Acetylcholine receptor deficiency
• Allelic: Cenani-Lenz syndactyly syndrome (LRP4)
• Allelic: Combined D-2- and L-2-hydroxyglutaric aciduria (SLC25A1)
• Allelic: Congenital disorder of glycosylation, type Ii (ALG2)
• Allelic: Congenital disorder of glycosylation, type Ij (DPAGT1)
• Allelic: Epidermolysis bullosa simplex with nail dystrophy (PLEC)
• Allelic: Epidermolysis bullosa simplex with pyloric atresia (PLEC)
• Allelic: Epidermolysis bullosa simplex, Ogna type (PLEC)
• Allelic: Escobar syndrome (CHRNG)
• Allelic: Fetal akinesia deformation sequence 1 (MUSK)
• Allelic: Fetal akinesia deformation sequence 2 (RAPSN)
• Allelic: Fetal akinesia deformation sequence 3 (DOK7)
• Allelic: Hyperkalemic periodic paralysis, type 2 (SCN4A)
• Allelic: Hypokalemic periodic paralysis, type 2 (SCN4A)
• Allelic: Multiple pterygium syndrome, lethal type (CHRNA1, CHRND, CHRNG)
• Allelic: Muscular dystrophy, limb-girdle, AR 17 (PLEC)
• Allelic: Muscular dystrophy-dystroglycanopathy [cong. with brain + eye anomalies], A, 14 (GMPPB)
• Allelic: Muscular dystrophy-dystroglycanopathy [cong. with mental retardation], B, 14 (GMPPB)
• Allelic: Muscular dystrophy-dystroglycanopathy [limb-girdle], type C, 14 (GMPPB)
• Allelic: Myotonia congenita, atypical, acetazolamide-responsive (SCN4A)
• Allelic: Neuronopathy, distal hereditary motor, type VIIA (SLC5A7)
• Allelic: Paramyotonia congenita (SCN4A)
• Allelic: Sclerosteosis 2 (LRP4)
• Allelic: Spastic ataxia 1, AD (VAMP1)
• Epidermolysis bullosa simplex with muscular dystrophy (PLEC)
• Myasthenia, congenital, 12, with tubular aggregates (GFPT1)
• Myasthenic syndrome, congenital,
• Myasthenic syndrome, congenital, 10 (DOK7)
• Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency (RAPSN)
• Myasthenic syndrome, congenital, 13, with tubular aggregates (DPAGT1)
• Myasthenic syndrome, congenital, 14, with tubular aggregates (ALG2)
• Myasthenic syndrome, congenital, 15, without tubular aggregates (ALG14)
• Myasthenic syndrome, congenital, 16 (SCN4A)
• Myasthenic syndrome, congenital, 17 (LRP4)
• Myasthenic syndrome, congenital, 18 (SNAP25)
• Myasthenic syndrome, congenital, 19 (COL13A1)
• Myasthenic syndrome, congenital, 1A, slow-channel; -1B, fast channel (CHRNA1)
• Myasthenic syndrome, congenital, 20, presynaptic (SLC5A7)
• Myasthenic syndrome, congenital, 21, presynaptic (SLC18A3)
• Myasthenic syndrome, congenital, 22 (PREPL)
• Myasthenic syndrome, congenital, 23, presynaptic (SLC25A1)
• Myasthenic syndrome, congenital, 24, presynaptic (MYO9A)
• Myasthenic syndrome, congenital, 25 (VAMP1)
• Myasthenic syndrome, congenital, 2A, slow-channel (CHRNB1)
• Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency (CHRNB1)
• Myasthenic syndrome, congenital, 3A, slow-channel; - 3B, fast-channel (CHRND)
• Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency (CHRND)
• Myasthenic syndrome, congenital, 4A, slow-channel; - 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)
• Myasthenic syndrome, congenital, 7, presynaptic (SYT2)
• Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects (AGRN)
• Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (MUSK)