Heterogeneity of the triple A syndrome and assessment of a case.

[triple a syndrome]

Allgrove syndrome (triple A syndrome ) is a rare autosomal recessive disorder characterized by achalasia , alacrima , adrenal insufficiency , and--occasionally--autonomic instability . Disease causing mutations have been found in the AAAS gene on 12 q 13 , but no strong phenotype-genotype correlation could be found . We present a 28 year -old woman with classical systemic features of triple A syndrome with prominent neurological dysfunctions /deficits , including distal muscular atrophy , progressive muscle weakness and wasting of both legs , sensibility dysfunction , hyperreflexia and autonomic dysfunction presented with excessive sweating . DNA sequencing of the AAAS gene revealed compound heterozygosity for previously reported mutations . A similar genotype was previously reported , but with a remarkably different phenotype .

Diseases
Validation

Diseases presenting "hyperreflexia" symptom

alexander disease

cadasil

triple a syndrome

This symptom has already been validated