Presentation
neurologic
Hyperreflexia
- […] basal ganglia 0007007 Choreoathetosis 0001266 Decreased serum ferritin Low ferritin level Reduced serum ferritin [ more ] 0012343 Disinhibition 0000734 Dysarthria Difficulty articulating speech 0001260 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]
Cerebellar Sign
- 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]
Babinski Sign
- […] nonspecific Mental-retardation [ more ] 0001249 Language impairment 0002463 Parkinsonism 0001300 Percent of people who have these symptoms is not available through HPO Anarthria Loss of articulate speech 0002425 Autosomal dominant inheritance 0000006 Babinski[rarediseases.info.nih.gov]
- signs ( Vidal et al ., 2004 ).[academic.oup.com]
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Face, Head & Neck
Hypomimia
- 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]
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Epidemiology
Sex distribution
Age distribution
Other symptoms
Oromandibular Dyskinesia
- Generalised choreic movements were noted with oromandibular dyskinesia, palatal tremor and dysarthrophonia. In eye movements, blepharospasm with hypometric saccades was noted.[mdsabstracts.org]
- Oromandibular dyskinesia was observed in 26 subjects (65%), causing tongue injury in 3; and 25 (63%) developed a characteristic speech with a dysarthrophonia, and an action-specific dystonia.[academic.oup.com]
Neuroaxonal Spheroids
- Axonal swellings (neuroaxonal spheroids) may be present. Evaluations Following Initial Diagnosis Psychometric, physiotherapy, speech therapy and dietary assessments should be made.[nbiadisorders.org]
- Neuronal loss was accompanied by the formation of neuroaxonal spheroids, with intraneural and extraneural iron deposition. Serum ferritin levels were low in the presence of normal serum iron, transferrin and haemoglobin levels.[jmg.bmj.com]
Orolingual Dyskinesia
- […] 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, tight, or groaning voice Orolingual[nbiacure.org]
- The facial and orolingual dyskinesia appears to be a consistent finding, and is characteristic of neuroferritinopathy. It is intriguing that all three mutations alter the reading frame, leading to a lengthening of the C-terminus of FTL.[academic.oup.com]
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