200 Section - Adult-Onset Kufs Disease Presenting With Rapid Balance Decline and Progressive Mobility Loss: A Case Report

Case Diagnosis: Adult-onset Kufs disease in a 46-year-old woman with a multigenerational history of early neurodegenerative decline. Her father developed visual loss at 25, and her aunt had balance and functional deterioration at 35. After developing similar progressive gait and balance symptoms, the patient underwent genetic confirmation and was referred for PM&R evaluation.

Case Description:

At age 44, the patient developed imbalance and gait instability, followed by rapid functional decline with frequent falls over six months. By eight months after onset, she required a wheelchair for most mobility due to unsafe ambulation.
Evaluation revealed intact sensation, preserved cognition and vision, and no dysphagia. Manual muscle testing showed asymmetry: LLE 1/5, RLE 4/5, LUE 4/5, RUE 5/5. Tone was normal without spasticity or cerebellar signs. Functionally, she managed basic transfers with supervision but could not maintain unsupported standing. Postural control and dynamic balance deficits limited gait training potential.
Rehabilitation focused on fall prevention, compensatory mobility, wheelchair skills, and caregiver education to support daily function amid disease progression. 

Discussions:

Kufs disease is a rare adult-onset neurodegenerative disorder with variable presentation. This case shows a rapid phenotype marked by early balance loss, asymmetric weakness, and swift decline in ambulation. Preserved cognition and vision contrast with her father’s visual onset, highlighting intrafamilial variation. The vertical inheritance pattern supports the autosomal dominant form linked to DNAJC5 mutations. For rehabilitation clinicians, early recognition of unexplained gait decline and proactive management are critical.

 

Conclusions:

Early identification of balance and mobility decline in patients with suggestive family history enables timely PM&R referral. Structured therapy and anticipatory mobility planning can sustain safety, participation, and quality of life in adults with Kufs disease.