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Adult-acquired Neurology - Huntington's Disease

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ness37's version from 2018-04-30 09:23

Section 1

Question Answer
DefinitionDegenerative central nervous system disorder due to the deficiency of the neurotransmitter GABA in the basal ganglia and damage of striatum
Basal gangliaImportant for regulating muscle tone, posture and initiating movement
CauseAn inherited chromosomal mutation - chromosome 4 (50% chance of inheriting, does not skip a generation)
Ethical issuesPre-symptomatic testing available for family members over 18 years (only affected person told - needs written consent) less than 1 in 5 choose to have the test, may impact decision to have children or not
Survivor guiltFamily members who do not inherit HD can experience this feeling and need psychological support
Incidence and prevalenceRare disease, worldwide and all ethnic groups affected. 6% have symptoms before 21 (juvenile HD) and 30% have symptoms after 50 (late onset HD)
Signs and symptomsInvoluntary, rapid, random, purposeless writhing movements (can be present at rest) which can be subtle or grossly displace the body = chorea
Motor changesChorea may be 1st symptom but it becomes increasingly severe, posture/gait/balance affected (risk of falls), Bradykinesia then akinesia, rigidity, distonia
BradykinesiaSlowness of movements
Cognitive changesUsually an early symptom, attention deficits, STM and orientation problems, executive dysfunction, impaired insight and judgement (capacity assessment may be necessary), lack of drive/initiation/concentration/self-care/apathy
Psychiatric problemsIncreased irritability/uncontrolled aggressive or sexual behaviour, mood swings, depression, compulsive behaviours, may consider suicide
DiagnosisIf family history known - by a DNA test. If not, presentation, progression and brain scans
PrognosisDeath occurs 17 years post onset, Pneumonia (then heart disease) is the most common cause of death, increased risk of falls/accidents
TreatmentNo cure/disease modifying drug. But, drug injected in spine slows down progression. Only symptoms can be managed: antidepressants, mood stabilisers, anti-psychotics, for the involuntary movements (side effects that affect speech + swallow)
MDT involvementBest seen in a coordinated team (understand each other's role + timely referrals). Examples of MDT: neurologist, specialist nurse, Physio, OT, SLT, Dietician, Respiratory Physician, Gastroenterologist, Palliative care
Implications for languageWFD, increased paraphasic errors, comprehension difficulties. Decreased number of words in speech, syntactic complexity, phrase length
Implications for speechHyperkinetic Dysarthria- prosodic disturbances, prolonged intervals, variable rate, mono-pitch, harsh voice/strangled, loudness variation, imprecise C's, distorted V's
Implications for swallowDysarthria occurs due to - postural instability, mandibular rigidity, swallow incoordination, repetitive swallows, cognitive decline, pharyngeal residue = lose weight (eating is tiring/ hand to mouth coordination is poor), aspiration pneumonia
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Section 2