[…] of global developmental delay and generalized seizures in childhood presented at the age of 21 with parkinsonian symptoms, including unsteady gait, frequent falls, and rigidity in all extremities, which steadily progressed over 4 years to leave her wheelchair-bound [ajnr.org]

For those with feeding difficulties, feeding therapy may be considered. [ncbi.nlm.nih.gov]

Physical therapy is recommended to maximize mobility and to reduce the risk for later-onset orthopedic complications (e.g., contractures, scoliosis, hip dislocation). [ncbi.nlm.nih.gov]

At 14 years of age, she was noted to have limited elbow extension, mild hirsutism and tapering of her fingers ( Figure 1 ; Supplementary Video ). A brain MRI at that time revealed iron deposition in the basal ganglia. [nature.com]

Note the high nasal bridge, downslanted palpebral fissures and large ears with prominent inferior crus of the antihelix. Bottom: patient 2 at 13 years of age. Note high nasal bridge and low hanging columella. [nature.com]

She developed abnormal eye movements and auditory inattention. There were no seizures. There was no family history of neurological disease. On examination, her head circumference was normal and she did not have any dysmorphic features. [annalsofian.org]

Symptoms include juvenile parkinsonism, dementia, abnormal eye movements and involuntary jerking of facial and finger muscles. Neuroferritinopathy is the only genetically dominant form of NBIA identified so far. [nbiaalliance.org]

Other clinical features include: spastic cerebral palsy spastic quadriplegia Iron accumulation in the brain specifically in globus pallidus and substantia nigra. This disorder is thought to be genetically determined with defective iron metabolism. [radiopaedia.org]

Its clinical course is described as biphasic with an initial presentation during childhood, as spastic quadriplegia or static encephalopathy with early developmental delay with or without seizures, followed by dementia in adulthood and the development [nature.com]

wheelchairs, walkers, bath chairs, orthotics, adaptive strollers) For muscle tone abnormalities including hypertonia or dystonia, consider involving appropriate specialists to aid in management of baclofen, Botox anti-parkinsonian medications, or orthopedic [ncbi.nlm.nih.gov]

Seizures are frequently multiform and include focal seizures with impaired consciousness, epileptic spasms [Hogarth, personal communication], and generalized seizures, including absence, atonic, myoclonic, and tonic-clonic [ Hayflick et al 2013 ]. [ncbi.nlm.nih.gov]

Unrecognized nocturnal seizure activity may contribute to abnormal sleep patterns. Some adults with BPAN continue to have sleep difficulties or develop new manifestations such as waking and vocalizing during the night. [ncbi.nlm.nih.gov]

Her infantile spasms and hypsarrhythmia disappeared promptly by adrenocorticotropic hormone therapy (CORTROSYN Z, 0.0125mg/kg/day daily for 2weeks intramuscularly), though the administration of pyridoxal phosphate and valproic acid had poor efficacy. [readbyqxmd.com]

Early referral to a neurology epilepsy sub-specialist is recommended if hypsarrhythmia or another aggressive electrographic pattern is found on EEG. [ncbi.nlm.nih.gov]

Numerous tau-positive neurofibrillary tangles were seen in several regions; no beta-amyloid plaques or Lewy bodies were observed [ Hayflick et al 2013 ]. [ncbi.nlm.nih.gov]