Dejerine–Sottas disease

Dejerine–Sottas syndrome
Classification and external resources
ICD-10	G60.0
ICD-9	356.0
OMIM	145900
DiseasesDB	5821
MeSH	D015417

Dejerine–Sottas disease, also Dejerine–Sottas syndrome or Dejerine–Sottas neuropathy (hereditary motor and sensory polyneuropathy type III; sometimes also described as a subtype III of Charcot–Marie–Tooth disease) is an autosomal dominant or autosomal recessive neuropathy.

Eponym

It is named for Joseph Jules Dejerine and Jules Sottas.^[1][2]

Causes

It has been associated with MPZ,^[3] PMP22,^[4] PRX,^[5] and EGR2.^[6]

Symptoms

It is usually characterized by infantile onset of moderate to severe lower and upper extremity weakness and loss of sensation.

Symptoms are usually more severe and rapidly progressive than in the other more common Charcot–Marie–Tooth diseases. Some carriers may never walk and solely use wheelchairs by the end of their first decade, while others may need only a cane (walking stick) or similar support through life.

Symptoms range from very common (muscle weakness, reduced sensation in the extremities, pain in the extremities, clawed hands and deformed feet, ataxia, peripheral areflexia) to rare (hearing loss, nystagmus, anisocoria).

Diagnosis

On medical imaging, the nerves of the extremities (and cranial nerves in some cases) appear enlarged due to hypertrophy of the connective interstitial tissue, giving the nerves a distinct 'onion-bulb' appearance. Peripheral (and possibly cranial) nerve excitability and conduction speed are reduced.

References

1. ^ synd/1736 at Who Named It?
2. ^ Dejerine, J. J.; Sottas, J. (1893). "Sur la névrite interstitielle hypertrophique et progressive de l’enfance; affection souvent familiale et à debut infantile, caractérisée par une atrophie musculaire des extrémities, avec troubles marqués de la sensibilité et ataxie des mouvements et relevant d'une névrite interstitielle hypertrophique a marche ascendante avec lésions médullaires consécutives". Comptes rendus des séances de la Société de biologie (Paris) 45: 63–96. 
3. ^ Hayasaka K, Himoro M, Sawaishi Y, et al. (November 1993). "De novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III)". Nat. Genet. 5 (3): 266–8. doi:10.1038/ng1193-266. PMID 7506095. 
4. ^ Roa BB, Dyck PJ, Marks HG, Chance PF, Lupski JR (November 1993). "Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene". Nat. Genet. 5 (3): 269–73. doi:10.1038/ng1193-269. PMID 8275092. 
5. ^ Kabzinska D, Drac H, Sherman DL, et al. (March 2006). "Charcot-Marie-Tooth type 4F disease caused by S399fsx410 mutation in the PRX gene". Neurology 66 (5): 745–7. doi:10.1212/01.wnl.0000201269.46071.35. PMID 16534116. http://www.neurology.org/cgi/pmidlookup?view=long&pmid=16534116. 
6. ^ Boerkoel CF, Takashima H, Bacino CA, Daentl D, Lupski JR (July 2001). "EGR2 mutation R359W causes a spectrum of Dejerine-Sottas neuropathy". Neurogenetics 3 (3): 153–7. doi:10.1007/s100480100107. PMID 11523566. http://link.springer.de/link/service/journals/10048/bibs/1003003/10030153.htm.