[2] Kufor–Rakeb syndrome was first identified in this region in Jordan with a Jordanian couple's 5 children who had rigidity, mask-like face, and bradykinesia.

[3] It is important to conduct genetic testing to screen family members, so the disease can be detected early and symptoms can be managed.

[9] Mutations in ATP13A2 have also been associated with hereditary spastic paraplegia, uncomplicated early- or late-onset parkinsonism, and neuronal ceroid lipofuscinosis.

[12] Diagnosing Kufor-Rakeb Syndrome requires extensive patient history alongside a physical and neurological examination.

In patients with KRS, MRI imaging can show cerebral atrophy and an accumulation of iron in the basal ganglia.

[6] Currently there are no disease-modifying treatments for Kufor Rakeb syndrome, so therapy is focused on the management of symptoms and improvement of quality of life of affected individuals.

[14] The goal of this medication is to alleviate motor symptoms by increasing the concentration of dopamine in the nervous system.

The help of caregivers or health professionals might also be necessary to perform activities of daily living, depending on the severity of the disease.

[citation needed] Kufor–Rakeb syndrome is considered an ultra-rare disorder and has only been diagnosed in less than 50 individuals in literature.