Huntington’s Disease

Huntington’s Disease

Pathology:                   An inherited progressiveneurodegenerative disorder causing abnormal involuntary movements (chorea),psychotic symptoms, cognitive decline and dementia


Aetiology:                    Autosomal dominanttrinucleotide repeat disorder due to mutation in Huntingtin gene on short armof chromosome 4


Symptoms:                  Early Symptoms: Personalitychanges, memory deficits, decreased executive skills

       and slowing of saccadic eye movements.

Later Symptoms: Depression,anxiety, irritability, aggression, obsessive-

                                                                                compulsive behavior, falls, speech andswallowing issues.


  Signs:                            Choreiformmovements, dystonia and ballism


Investigations:          Bloods: Genetic counseling forpatient and family

Imaging: MRI brain may showatrophy of caudate lobe


Treatment:                  Chorea: Tetrabenazine.

Depression: Antipsychotics/SSRIs/benzodiazepines

Dysphagia: Modified diet, PEGfeeding

MDT Approach: Physiotherapy, occupationaltherapy, SALT and family input


Complications:          Pneumonia,cardiac disease and suicide


Prognosis:                    Average survival after onsetof symptoms is around 20 years.


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