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IllnessMyasthenes Syndrom, kongenital; Differentialdiagnose

Summary

Short information

Comprehensive differential diagnostic panel for (congenital) myasthenic syndrome containing 6c re candidate genes and altogether 32 curated genes according to the clinical signs

ID
MP0830
Number of genes
28 Accredited laboratory test
Examined sequence length
9,9 kb (Core-/Core-canditate-Genes)
72,9 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
CHAT2247NM_020549.5AR
CHRNE1482NM_000080.4AD, AR
COLQ1368NM_005677.4AR
DOK71515NM_173660.5AR
GFPT12046NM_001244710.2AR
RAPSN1239NM_005055.5AR
AGRN6138NM_198576.4AR
ALG14651NM_144988.4AR
ALG21251NM_033087.4AR
CHRNA11374NM_000079.4AD, AR
CHRNB11506NM_000747.3AD, AR
CHRND1554NM_000751.3AD, AR
CHRNG1554NM_005199.5AR
COL13A12365NM_001130103.2AR
DPAGT11227NM_001382.4AR
GMPPB1164NM_013334.4AR
LRP45718NM_002334.4AR
MUSK2610NM_005592.4AR
MYO9A8047NM_006901.4AR
PLEC13725NM_000445.5AR
PREPL1998NM_001042385.2AR
SCN4A5511NM_000334.4AR
SLC18A31600NM_003055.3AR
SLC25A1957NM_001256534.2AR
SLC5A71743NM_021815.5AR
SNAP25621NM_003081.5AD
SYT21260NM_177402.5AD
VAMP1357NM_014231.5AR

Informations about the disease

Clinical Comment

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/

 

Synonyms
  • 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)
Heredity, heredity patterns etc.
  • AD
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined