Abstract
Fahr’s disease is a rare idiopathic degenerative disease characterized by calcifications in the brain, and has also been associated with balance impairment. However, a detailed analysis of balance in these patients has not been performed. A 69-year-old woman with Fahr’s disease presented with a long-lasting subjective imbalance. Balance was analyzed using both clinical (EquiScale, Timed Up and Go test, and Dizziness Handicap Inventory-short form) and instrumented tests (the sway of the body center of mass during quiet, perturbed, and self-perturbed stance, and the peak curvature of the center of mass during single stance while walking on a force-treadmill). The patient’s balance was normal during clinical tests and walking. However, during standing, a striking impairment in vestibular control of balance emerged. The balance behavior displayed mixed parkinsonian (e.g., slowness and reduced amplitude of movement) and cerebellar (e.g., increased sway during standing in all conditions and decomposition of movement) features, with a discrepancy between the high severity of the static and the low severity of the dynamic balance impairment. The balance impairment characteristics outlined in this study could help neurologists and physiatrists detect, stage, and treat this rare condition.
Highlights
Fahr’s disease is a rare, idiopathic, degenerative neurological disease characterized by calcifications, typically bilateral and symmetrical, within the basal ganglia, internal capsule, cerebellum, thalamus, and the cerebral white matter (Hernández et al, 2012)
The current study describes a patient with Fahr’s disease with a complaint of poor balance that impacted her daily living
The posturographic assessment revealed the impairment of both static and, to a minor extent, dynamic balance, the balance was normal on clinical examination and there was no recent history of falls
Summary
Fahr’s disease is a rare, idiopathic, degenerative neurological disease characterized by calcifications, typically bilateral and symmetrical, within the basal ganglia (e.g., globus pallidus, putamen, caudate nucleus), internal capsule, cerebellum (typically the dentate nucleus), thalamus, and the cerebral white matter (Hernández et al, 2012). Clinical manifestations include neurological and psychiatric features. Parkinsonism is the most common clinical manifestation of the disease, followed by cognitive impairment and cerebellar signs (Manyam, 2005). Fahr’s disease, whose actual prevalence is unknown (Mufaddel and Al-Hassani, 2014), can manifest as autosomal-dominant, familial, and sporadic forms (Manyam, 2005). Balance impairment has been reported in patients with Fahr’s disease (Castello and Pallestrini, 1997; Wang et al, 2015; Sallì et al, 2016; Parasram et al, 2020).
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