Clinical decision making and application of an active rehabilitation program for a person with the neuromuscular symptoms of Allgrove syndrome: a case report.

BACKGROUND: Allgrove syndrome is a multisystem disorder first described in 1978 and is classically associated with esophageal achalasia, alacrima, and adrenal insufficiency. Allgrove syndrome is caused by homozygous and/or compound heterozygous mutations on Chromosome 12q13, designated as "AAA" (Achalasia, Addisonianism Alacrima). AAA encodes the protein ALADIN (Alacrima, Achalasia, aDrenal Insufficiency Neurologic disorder), a member of the nuclear porin family forming the nuclear pore complex.

PURPOSE: The purpose of this case report is to illustrate the clinical decision making and results following an active rehabilitation program on a patient with Allgrove syndrome. A detailed physical examination is also provided to contribute to the body of knowledge regarding the clinical presentation of this disorder.

CONCLUSION: It appears that in this case, this patient with Allgrove syndrome demonstrated a significant increase in endurance, balance, and a return to functional activities and participation following a 10-week physical therapy program consisting of task-oriented exercise, aerobic training, postural control exercises, and patient education. Due to the pathophysiology of Allgrove syndrome, these patients cannot be exercised in a traditional manner. It is prudent to perform these interventions with precautions including frequent monitoring of vitals, rest breaks in cool environments, close supervision during balance tasks, and submaximal exercise at a Borg scale of moderate intensity. C.A.'s overall improvements illustrate the potential value of complementing the medical management of persons with Allgrove syndrome with active exercise interventions.