IllnessDéjerine-Sottas syndrome, differential diagnosis

NGS +

Dejerine-Sottas syndrome (DSS) is a historical term for a rare and severe form of Charcot-Marie-Tooth disease (CMT3, HSMNIII). It affects limb mobility, including the inability to walk even in infancy without shortening lifespan or limiting brain function. Peripheral nerves appear thickened, and muscle weakness starts early on. DSS can be irregular and is often accompanied by pain, weakness, numbness and a tingling, prickling or burning sensation in the legs. The extremely slow nerve conduction velocity (<10-12 m/s) causes areflexia combined with foot deformities. Genetic tests allow to differentiate between the few mutated genes involved. The inheritance patterns are either autosomal recessive or dominant. Due to the rarity of DSS and the exclusively clinical definition, the molecular genetic diagnostic yield is not known.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1358/

• 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