eSanatos - sanatatea ta e preocuparea noastra!
    Cauta in site
NutritieBoli
                 Home | Creeaza cont nou | Login membri


Diseases

NAVIGARE RAPIDA: » Pagina principala » GHID MEDICAL » termeni medicali » diseases

Behr syndrome (optic atrophy ataxia syndrome)   134


Behr Syndrome (Optic Atrophy Ataxia Syndrome) 828f51i 828f51i 828f51i 828f51i 828f51i 828f51i 828f51i 828f51i 828f51i 828f51i 828f51i 828f51i 828f51i 828f51i 828f51i 828f51i 828f51i 828f51i 828f51i    134

General: Infantile form of heredofamilial optic atrophy and hereditary ataxia; autosomal recessive; rare; temporary progression that after some years leads to a static condition; both sexes equally affected, although transmission of pure hereditary optic atrophy shows marked predominance in males; in most cases, the abnormalities do not progress after childhood.

Ocular: Nystagmus; central scotoma; severe progressive temporal atrophy of the optic nerve; bilateral retrobulbar neuritis; horizontal nystagmus.

Clinical: Pyramidal tract signs (increased tendon reflexes and positive Babinski sign); ataxia and disturbance of coordination; mental deficiency; vesical sphincter muscle weakness; muscular hypertonia; clubfoot; progressive spastic paraplegia; dysarthria; head nodding.

Behr C. Die Komplizierte, Hereditarfamiliare Optikusatrophie des Kindesalters; ein Fisher Nicht Beschriebener Symptomenkomplex. Klin Monatsbl Augenheilkd 1909; 47: 136.

Landrigan PJ, et al. Behr's syndrome: familial optic atrophy, spastic diplegia and ataxia. Dev Med Child Neurol 1973; 15:41-47.

Magalini SI, Scrascia E. Dictionary of Medical Syndromes, 2nd ed. Philadelphia: JB Lippincott, 1981.

Sheffer RN, et al. Behr's syndrome and 3-methylglutaconic aciduna. Am J Ophthalmol 1992; 114:494-497.

Miller NR, ed. Walsh and Hoyt's Clinical Neuro-Ophthalmology, vol. 1., 4th ed. Baltimore: Williams & Wilkins, 1982.




Alte materiale medicale despre: diseases

Pyoderma Vegetans (Dermatitis Vegetans) General: Occ [...]
Cogan-Guerry Syndrome (Microcystic Corneal Dystrophy; Map-Dot Fingerprint Dystrophy)   264 General [...]
Bogorad Syndrome (Paroxysmal Lacrimation Syndrome; Crocodile Tear Syndrome)   &n [...]

Copyright © 2010 - 2024 : eSanatos.com - Reproducerea, chiar si partiala, a materialelor de pe acest site este interzisa!
Informatiile medicale au scop informativ si educational. Ele nu pot inlocui consultul medicului si nici diagnosticul stabilit in urma investigatiilor si analizelor medicale la un medic specialist.
Termeni si conditii -
Confidentialitatea datelor - Contact



Despre diseases

    Alte sectiuni

    Ai o problema medicala?
    Daca vrei raspunsuri scrie intrebarea mai jos:

    Unde se incadreaza problema medicala?

    Scrie codul din imaginea alaturat

    Vezi toate intrebarile