He had hoarseness of voice with difficulty in swallowing and a recent change in his behaviour. With normal birth history and developmental milestones, there is no consanguineous marriage in the family. [mdsabstracts.org]

[…] used to make speech This can make a person’s speech difficult to understand in several different ways, including stuttering, slurring, or soft or raspy speech Dysphonia (movement of the vocal cords is forced and strained) Results in a jerky, quivery, hoarse [nbiacure.org]

Death can occur secondary to dystonia, impaired swallowing, and aspiration pneumonia. TREATMENT There is currently no cure for NBIA. Treatment is symptomatic and supportive. Iron chelating medications have been attempted without significant effect. [secure.ssa.gov]

disorders Behavioral disturbances Behavioral problems Behavioral/psychiatric abnormalities Behavioural/Psychiatric abnormality Psychiatric disorders Psychiatric disturbances [ more ] 0000708 Constipation 0002019 Dementia Dementia, progressive Progressive [rarediseases.info.nih.gov]

While 35% developed facial hypomimia and bradykinesia not directly related to their dystonia; only one individual developed a pure rest tremor, and another had tremor present at rest and on intention. [academic.oup.com]

facial expression 0000338 Laryngeal dystonia 0012049 Micrographia 0031908 Mutism Inability to speak Muteness [ more ] 0002300 Neurodegeneration Ongoing loss of nerve cells 0002180 Progressive Worsens with time 0003676 Rigidity Muscle rigidity 0002063 [rarediseases.info.nih.gov]

The clinical features of the disease are highly variable, and include a movement disorder, behavioral abnormalities, and cognitive impairment. [ncbi.nlm.nih.gov]

Neurologic signs include parkinsonism, abnormal postures and movements (dystonia), ataxia, muscle rigidity, spasticity, and cognitive impairment. MRI of the brain can be helpful to demonstrate the accumulation of iron in the basal ganglia. [secure.ssa.gov]

They're all characterized by variable presentation of chorea, dystonia, and parkinsonism, cognitive impairment, and psychiatric disturbance. 0:31 The CAG repeat diseases comprise Huntington's disease, DRPLA, SBMA, and SCA1, 2, 3, 6, 7 and 17. [hstalks.com]

The original family carried a clinical diagnosis of Huntington's disease, but the lack of cognitive impairment over many years of follow-up first alerted us to this new disease. [academic.oup.com]

Some individuals with aceruloplasminemia develop cognitive impairment, which can progress to dementia. Behavioral or emotional changes (e.g., depression) may also occur. [rarediseases.org]

[…] ferritin Low ferritin level Reduced serum ferritin [ more ] 0012343 Disinhibition 0000734 Dysarthria Difficulty articulating speech 0001260 Dyskinesia Disorder of involuntary muscle movements 0100660 Emotional lability Emotional instability 0000712 Hyperreflexia [rarediseases.info.nih.gov]

Children with PKAN typically manifest gait problems around age 3 and later develop progressive dystonia, dysarthria, rigidity, spasticity, hyperreflexia and extensor toe signs. [nbiaalliance.org]

Spasticity and hyperreflexia as well as retinopathy are often present. The atypical form most commonly presents in the second decade of life and its clinical features are less homogeneous, with less severe extrapyramidal and pyramidal signs. [doi.org]

With the exception of the reported cerebellar signs, the clinical presentation of the patients with the 498InsTC and 646InsC mutations fall within the spectrum we have seen in patients with 460InsA. [academic.oup.com]

sign 0003487 Blepharospasm Eyelid spasm Eyelid twitching Involuntary closure of eyelid Spontaneous closure of eyelid [ more ] 0000643 Cavitation of the basal ganglia 0007007 Choreoathetosis 0001266 Decreased serum ferritin Low ferritin level Reduced [rarediseases.info.nih.gov]

signs ( Vidal et al ., 2004 ). [academic.oup.com]

With the exception of the reported cerebellar signs, the clinical presentation of the patients with the 498InsTC and 646InsC mutations fall within the spectrum we have seen in patients with 460InsA. [academic.oup.com]

Kompoliti’s include the gender differences in Parkinson’s disease and other movement disorders, studies to define the effect of neuroleptics on weight, risk for diabetes and dyslipidemia in patients with Tourette syndrome, and define the current status [books.google.com]