Disclosures: Myriam Lacerte, MD: Nothing to disclose

Case Description: The patient endorsed an approximate 5-year history of progressively worsening ankle tightness and weakness which led to difficulty running and a tendency to trip over his toes. He underwent magnetic resonance imaging of the brain, cervical and thoracic spine, which were unremarkable. Electromyography was performed and was reportedly non-diagnostic.

Setting: Physiatry clinic within an academic medical center.

Patient: A 32-year-old man without significant past medical history, referred by his neurologist for spasticity management.

Assessment/Results: Physical examination showed high-arched feet with bilateral curling of the toes. Spasticity was limited to the ankles and was graded as 2/4 on the Modified Ashworth Scale on the right and 1+ /4 on the left. Hyperreflexia was noted bilaterally at the knees and ankles, with normal reflexes in the upper limbs. Gait was remarkable for impaired ankle clearance bilaterally in the swing phase. He was then referred to Medical Genetics and underwent testing which revealed a mutation in the ABCD1 gene and elevated levels of very long chain fatty acids, which was consistent with a diagnosis of adult-onset adrenomyeloneuropathy (AMN). He was subsequently evaluated by an endocrinologist, who diagnosed him with early adrenal insufficiency.

Discussion: AMN is a form of X-linked adrenoleukodystrophy that is caused by mutations in the ABCD1 gene. Its clinical manifestations result from the accumulation of high levels of very long-chain fatty acids in the nervous system, adrenal glands, and testes. It classically presents as progressive stiffness and weakness in the legs in affected males in their twenties.

Conclusion: Patients with AMN may present to physiatrists with spasticity and gait dysfunction of unknown etiology. When imaging and electrodiagnostic testing fail to reveal, the physiatrists should consider referral for genetic testing. A prompt diagnosis facilitates the treatment of adrenal insufficiency, as well as appropriate genetic counseling and family planning.

Level of Evidence: Level V

« Back to AAPM&R Annual Assembly 2019

PM&R Meeting Abstracts - https://pmrjabstracts.org/abstract/adrenomyeloneuropathy-an-uncommon-cause-of-spastic-gait-a-case-report/