Urbach–Wiethe disease

The Urbach - Wiethe syndrome (also Lipoidproteinose or Hyalinosis cutis et mucosae) is a very rare genetic disease (autosomal recessive ) associated with skin lesions, mucosal changes ( hoarseness) and calcification of the amygdala, a part of the limbic system, associated and years in 1929 first described as Lipoidosis cutis et mucosae. The disorder does not have a cipher in the ICD -10 classification.

Neurological symptoms and complaints

The failure of the structures of the amygdala is among those concerned about limitations of emotion and social behavior and memory. Sufferers have particular difficulties to tap into the emotional meaning of facial expressions.

Causes

The disease is genetic, occurs frequently family and is quite often accompanied by changes on the long arm of chromosome 1 ( 1q21 ), namely mutations in the extracellular matrix protein 1 gene ( ECM1 ).

Consequences and complications

The lack of integration of emotional signals interfere with social interaction and leads to difficulties in conversations and in social behavior. The result can be exclusion, social discrimination, retreat into privacy, failure in school and at work, difficulties in the partnership, isolation and loneliness. The Urbach - Wiethe syndrome may possibly be misconstrued as a lack of social skills, unwillingness, clumsiness or malice. It can easily be confused with autism, feeling blindness or mental disability.

Treatment

About a causal therapy, which goes beyond symptomatic treatment, nothing is known.

Related Topics

• Mental disorder
• List of syndromes
• List of mental disorders