Abstract Background The elucidation of pathomechanisms leading to the manifestation rare (genetically caused) neurological diseases including neuromuscular (NMD) represents an important step toward understanding genesis respective disease and might help define starting points for (new) therapeutic intervention concepts. However, these “discovery studies” are often limited by availability human ...

Allgrove’s or “4 A” syndrome is a rare autosomal recessive condition with alacrima, achalasia, autonomic disturbance, and ACTH insensitivity among other features. Recent studies have identified mutations in the AAAS, a candidate gene on chromosome 12q13 in such patients. Manifestations in adult patients are rarely reported. The syndrome usually presents during the first decade of life with dysp...

To cite: Kapoor N, Shetty S, Shetty S, et al. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2014203672 DESCRIPTION A 19-year-old boy presented with history of progressive dysphagia and vomiting of 3 years duration. Dysphagia was more for liquids than solids. At the age of 8 he had vomiting and asthenia, and was noticed to have hyperpigmentation. At that time he ...

The triple A or Allgrove's syndrome (MIM*231550) is an autosomal recessive disease characterized by the triad of adrenocorticotropic hormone (ACTH) resistant adrenal insufficiency, achalasia and alacrima. Since its first description by Allgrove et al. (1978) more than 70 cases from all over the world have been reported. The syndrome manifests itself during the first decade of life with severe h...

Idiopathic achalasia is an archetype esophageal motor disorder, causing significant impairment of eating ability and reducing quality of life. The pathophysiological underpinnings of this condition are loss of esophageal peristalsis and insufficient relaxation of the lower esophageal sphincter (LES). The clinical manifestations include dysphagia for both solids and liquids, regurgitation of eso...

OBJECTIVE ACTH resistance syndromes are rare, autosomal, and genetically heterogeneous diseases that include familial glucocorticoid deficiency (FGD) and triple A syndrome. FGD has been shown to segregate with mutations in the gene coding for ACTH receptor (MC2R) or melanocortin 2 receptor accessory protein (MRAP), whereas mutations in the triple A syndrome (AAAS, Allgrove syndrome) gene have b...

Triple A (Allgrove) syndrome is characterized by achalasia, alacrima, adrenal abnormalities and a progressive neurological syndrome. Affected individuals have between two and four of these relatively common clinical problems; hence the diagnosis is often difficult in all but the classical presentation. The inheritance is autosomal recessive, and most cases of triple A have no family history. Us...