200 - Rehabilitation in symptomatic X-linked adrenomyeloneuropathy with functional decline

Case Diagnosis: X-linked adrenomyeloneuropathy attributed to ABCD1 gene, c.818C >T, A273V variant of uncertain clinical significance

Case Description: A 38-year-old male presented with 5-6 years of progressive gait impairment, bilateral leg weakness, decreased coordination, frequent falls, and occasional bowel incontinence. Examination revealed bilateral lower limb weakness, symmetric lower limb hyperreflexia, unsteady spastic gait, mild bilateral compensated Trendelenburg, and impaired light touch, pinprick, and proprioception in bilateral lower limbs. MRI revealed mild diffuse spinal cord atrophy without cerebral involvement, and EMG suggested mild length-dependent sensorimotor peripheral neuropathy. Genetic testing of the ABCD1 gene revealed a variant of uncertain clinical significance, c.818C >T, A273V. Based on genetic testing and consistent clinical presentation, X-linked adrenomyeloneuropathy was diagnosed. He was evaluated in neurorehabilitation clinic and referred for multidisciplinary rehabilitation including lower limb strengthening, gait training, wheelchair seating evaluation, and adaptive mobility strategies.

Discussions: Adrenomyeloneuropathy is a subtype of X-linked adrenoleukodystrophy characterized by adult age at symptom onset. It is the most common subtype in men with X-linked adrenoleukodystrophy who survive into adulthood. Adrenomyeloneuropathy presents with progressive spastic paraparesis, neurogenic bowel and bladder, peripheral neuropathy, and often with adrenal insufficiency. The specific variant in this case has only been reported in one other individual with X-linked adrenoleukodystrophy and remains classified as a variant of uncertain clinical significance. Management of adrenomyeloneuropathy is largely supportive, aiming to optimize function and quality of life. This case demonstrates the rehabilitation needs of patients with this genetic condition and highlights the opportunity for physiatrists to assist with the coordination of long-term, multidisciplinary rehab care for this patient population.

Conclusions: Early involvement of physiatric care in X-linked adrenomyeloneuropathy can attenuate functional decline and improve independence. Physiatrists should consider genetic conditions as a potential diagnosis in cases of unexplained spastic paraparesis. Comprehensive rehabilitation is essential in maximizing function and quality of life for patients with this rare disorder.