Abstract
ABSTRACT 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.
Published Version
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