Dejerine Sottas syndrome

Infobox_Disease
Name = PAGENAME


Caption =
DiseasesDB = 5821
ICD10 = ICD10|G|60|0|g|60
ICD9 = ICD9|356.0
ICDO =
OMIM = 145900
MedlinePlus =
eMedicineSubj =
eMedicineTopic =
MeshID = D015417

Dejerine-Sottas Syndrome/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. [WhoNamedIt|synd|1736] [J. J.Dejerine, J. Sottas. 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, 1893, 45: 63-96. ]

Causes

It has been associated with MPZ,cite journal |author=Hayasaka K, Himoro M, Sawaishi Y, "et al" |title=De novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III) |journal=Nat. Genet. |volume=5 |issue=3 |pages=266–8 |year=1993 |month=November |pmid=7506095 |doi=10.1038/ng1193-266 |url=http://dx.doi.org/10.1038/ng1193-266] PMP22,cite journal |author=Roa BB, Dyck PJ, Marks HG, Chance PF, Lupski JR |title=Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene |journal=Nat. Genet. |volume=5 |issue=3 |pages=269–73 |year=1993 |month=November |pmid=8275092 |doi=10.1038/ng1193-269 |url=http://dx.doi.org/10.1038/ng1193-269] PRX,cite journal |author=Kabzinska D, Drac H, Sherman DL, "et al" |title=Charcot-Marie-Tooth type 4F disease caused by S399fsx410 mutation in the PRX gene |journal=Neurology |volume=66 |issue=5 |pages=745–7 |year=2006 |month=March |pmid=16534116 |doi=10.1212/01.wnl.0000201269.46071.35 |url=http://www.neurology.org/cgi/pmidlookup?view=long&pmid=16534116] and EGR2.cite journal |author=Boerkoel CF, Takashima H, Bacino CA, Daentl D, Lupski JR |title=EGR2 mutation R359W causes a spectrum of Dejerine-Sottas neuropathy |journal=Neurogenetics |volume=3 |issue=3 |pages=153–7 |year=2001 |month=July |pmid=11523566 |doi= |url=http://link.springer.de/link/service/journals/10048/bibs/1003003/10030153.htm]

ymptoms

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, and some carriers may never walk and be wheelchair-bound 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