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Alternating hemiplegia

 The alternating hemiplegia (AHC) is a rare neurological disorder characterized by recurrent hemiplegic attacks involving one side or both sides of the body.

The hemiplegic attacks can vary from a simple weakness to a complete loss of movement and sensitivity. They can last minutes, hours, days or weeks and they usually disappear during sleep.

Children with AHC show a wide range of symptoms in addition to those typical of the disorder: hypotonic attacks (lack of muscle tone), dystonic posture (stiffening of the extremities), nystagmus and other oculomotor abnormalities as well as seizures and mental retardation.

These neurological manifestations are not common to all of the children with AHC and currently there is no evidence that they are actually...

Published 05-26-2011 in Guidelines published by CNMR , last update 07-27-2011 More...

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Down's syndrome

 “Guidelines for the multidisciplinary integrated care for people with Down’s syndrome and their families " were prepared by the group LGSD (Guidelines on Down Syndrome) consisting of family members, health professionals, social workers and researchers.

Published 05-26-2011 in Guidelines published by CNMR , last update 07-27-2011 More...

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Inherited epidermolysis bullosa

 Inherited epidermolysis bullosa (EB) is a wide and heterogeneous group of genetic disorders characterized by fragility of the skin, blister formation and abnormal wound healing.

Clinical manifestations range widely. EB may be present at birth or appear in early childhood or in adulthood. It can affect only the skin or mouth mucosal, esophagus, pharynx, larynx, eye, etc. Some subtypes are accompanied by alteration of hair, nails and teeth. Bullous lesions may heal without leaving any marks or scars.

The most serious form of EB are accompanied by extracutaneous complications such as congenital pyloric atresia, muscular dystrophy, infections, delayed growth, esophagus stenosis, early onset of skin cancer.

EB is inherited in either an autosomal dominant or...

Published 02-09-2009 in Guidelines published by CNMR , last update 07-27-2011 More...

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