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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessParamyotonia congenita

Request form illness

Summary

Short information

Curated single gene sequence analysis according to the clinical suspicion Paramyotonia congenita

ID
PS0370
Number of genes
1 Accredited laboratory test
Examined sequence length
5,6 kb (Core-/Core-canditate-Genes)
- (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
SCN4A5511NM_000334.4AD

Informations about the disease

Clinical Comment

Paramyotonia congenita begins in infancy or early childhood with myotonia as well as stiffness of the skeletal muscles and typically occurs after physical exertion or in the cold. The stiffness worsens the more the patient moves. Allelic disorders include hyperkalemic periodic paralysis, type 2; hypokalemic periodic paralysis, type 2; myasthenic syndrome 16, congenital; myotonia congenita, atypical, responsive to acetazolamide. Inheritance is autosomal dominant with almost complete penetrance in the allelic disorders - the only exception being autosomal recessive congenital myasthenic syndrome 16. The diagnostic yield has not yet been determined in representative cohorts.

Reference: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4852070/

 

Synonyms
  • Alias: Kältemyotonie
  • Alias: Paramyotonia congenita Eulenburg
  • Allelic: Hyperkalemic periodic paralysis, type 2 (SCN4A)
  • Allelic: Hypokalemic periodic paralysis, type 2 (SCN4A)
  • Allelic: Myasthenic syndrome, congenital, 16 (SCN4A)
  • Allelic: Myotonia congenita, atypical, acetazolamide-responsive (SCN4A)
  • Allelic: Paramyotonia congenita (SCN4A)
Heredity, heredity patterns etc.
  • AD
OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined