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Agenesis of the corpus callosum is a malformation that may occur in an isolated way or in association with other disorders of central nervous system.
Disease definition Corpus callosum agenesis-neuronopathy syndrome is a neurodegenerative disorder characterized by severe progressive sensorimotor neuropathy beginning in infancy with resulting hypotonia, areflexia, amyotrophy and variable degrees of dysgenesis of the corpus callosum.
Health care resources for this disease Expert centres Diagnostic tests 23 Patient organisations 49 Orphan drug s 0. NeonatalAntenatal ICD Cl 10 A- An early stimulation program has been proposed calolso, if possible, a psychomotor rehabilitation program that offers improvement of motor and learning disorders. Services on Demand Article. Check this box if you wish to receive a copy of your message.
Agenesia del cuerpo calloso: un tema poco conocido.
Postnatal diagnosis may be carried out by performing ultrasound, computerized tomography or magnetic resonance. Prenatal diagnosis may be performed through ultrasound and magnetic resonance from week 20 of pregnancy. Summary and related texts. Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.
Agenesis of the corpus callosum: Additional features include mild-to-severe intellectual and developmental delays, and psychiatric manifestations that include paranoid delusions, depression, hallucinations, and “autistic-like” features.
Spanish pdf Article in xml format Article references How to cite this article Automatic translation Send this article by e-mail. Currently, there is no specific treatment for ACC. Agenesis of Corpus Callosum; Congenital abnormalities; Nervous system malformation; Prenatal diagnosis.
For all other comments, cueroo send your remarks via contact us. The documents contained in this web site are presented for information purposes only. Andermann syndrome Charlevoix disease Prevalence: Affected individuals are usually wheelchair restricted in the second decade of life and die in the third decade of life. Only comments written in English can be processed.
Additional information Further information on this disease Classification s 3 Gene s 1 Clinical signs and symptoms Other website s 8. Specialised Social Services Eurordis directory. Calllso information Professionals Summary information Suomipdf Clinical genetics review English How to cite this article.
Agenesia del cuerpo calloso
Other search option s Alphabetical list. The disease is inherited as an autosomal recessive trait.
Dysgenesis of corpus callosum may be complete, known as agenesis of the corpus callosum, or partial, known as hypoplasia of the Corpus. Corpus callosum is present only in placental mammals and is composed by approximately – million axons that connect left and right hemispheres.
Corpus callosum agenesis-neuronopathy syndrome is a neurodegenerative disorder characterized by severe progressive sensorimotor neuropathy beginning in infancy with resulting hypotonia, areflexia, amyotrophy and variable degrees of dysgenesis of the corpus cuerpi.
Surgical choice is contemplated only for management of associated malformations susceptible of being corrected; symptomatic treatment must be carried out when there are convulsive syndromes.
Among the most frequent clinical findings in patients with agenesis of the Corpus Callosum are mental retardation, visual impairment and seizures.