Deutsch
IllnessDéjerine-Sottas syndrome, differential diagnosis
Summary
Short information
Comprehensive differential diagnostic panel for Dejerine-Sottas syndrome comprising 4 or 5 curated genes, respectively, according to the clinical signs
ID
PP0980
Number of genes
5
Accredited laboratory test
Examined sequence length
8,9 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
Informations about the disease
Clinical Comment
Severe CMT phenotype with onset in infancy, severe motor weakness, delayed motor development, extremely slow nerve conduction (<10-12 m/s), areflexia + foot deformity
Synonyms
- Alias: CMT3
- Alias: Dejerine-Sottas syndrome, DSS
- Alias: HSMNIII
- Alias: Hypertrophic neuropathy of Dejerine-Sottas
- Alias: Severe childhood-onset genetic neuropathies of any inheritance
- Allelic: Charcot-Marie-Tooth disease, dominant intermediate D (MPZ)
- Allelic: Charcot-Marie-Tooth disease, type 1A
- Allelic: Charcot-Marie-Tooth disease, type 1D (EGR2)
- Allelic: Charcot-Marie-Tooth disease, type 1E (PMP22)
- Allelic: Charcot-Marie-Tooth disease, type 2I (MPZ)
- Allelic: Charcot-Marie-Tooth disease, type 2I, 2J (MPZ)
- Allelic: Charcot-Marie-Tooth disease, type 4F (PRX)
- Allelic: Hypomyelinating neuropathy, congenital, 1 (EGR2)
- Allelic: Hypomyelinating neuropathy, congenital, 2 (MPZ)
- Allelic: Neuropathy, recurrent, with pressure palsies (PMP22)
- Allelic: Roussy-Levy syndrome (MPZ, PMP22)
- Charcot-Marie-Tooth disease type 3; CMT3
- Giant axonal neuropathy 2, AD (DCAF8)
- Hereditary motor and sensory neuropathy type III; HMSNIII
Heredity, heredity patterns etc.
- AD
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
G60.0
Bioinformatics and clinical interpretation
No text defined