Clinical Manifestations
This early psychiatric symptom often appears before movement problems and includes irritability or mood swings
Changes in mood or personality
Degeneration primarily occurs in this brain region involved in movement coordination and habit formation
The caudate nucleus (basal ganglia)
This type of characteristic movement seen on the neurological exam helps clinicians identify early signs
Involuntary choreiform movements
This class of medications may help manage irritability and depression
SSRIs or antidepressants
Symptoms typically appear during this stage of life, although juvenile cases exist
Mid-adulthood 30s–40s
This involuntary dance-like movement affects the face, trunk, and limbs
Chorea
Mutant genes can impair glutamate uptake and lead to prolonged calcium influx. This ultimately leads to
Neuronal Death
This imaging technique can show early volume loss in the caudate nucleus
MRI
This medication reduces involuntary movements by decreasing dopamine levels
Tetrabenazine or deutetrabenazine
This phenomenon describes earlier and more severe disease in successive generations due to increasing CAG repeat length
Genetic anticipation
This cognitive decline symptom includes increasing difficulty with planning and multitasking
Executive function impairment
Neuronal death disrupts these two neurotransmitters that regulate movement
Acetylcholine and Dopamine
Cognitive testing may reveal deficits in this domain related to memory and thinking speed
Processing speed and working memory
Patients often work with this type of therapist to maintain mobility and muscle control
Physical therapist
The mutated gene responsible for the disorder is located on this chromosome
Chromosome 4
This symptom may lead to unintentional weight loss despite adequate caloric intake
Hypermetabolic state
This progressive change in the brain leads to enlarged ventricles visible on imaging
Atrophy of basal ganglia structures
Diagnosis can be confirmed with this form of laboratory testing that identifies the number of repeated DNA sequences
Genetic testing for CAG repeat expansion
This supportive therapy helps patients communicate as speech muscles weaken
Speech therapy
Patients may exhibit this emotional symptom involving sudden, inappropriate laughing or crying
Pseudobulbar affect
In later stages, patients experience this severe motor change characterized by rigidity and loss of voluntary movement
Bradykinesia and dystonia
The disorder is due to an expanded repeat of this trinucleotide sequence within a specific gene
CAG trinucleotide repeat expansion
A positive family history strongly suggests this condition due to its inheritance pattern
A dominantly inherited neurodegenerative disease
While there is no cure, this type of multidisciplinary care approach improves quality of life
Symptom-focused, supportive, team-based management
Life expectancy after symptom onset is typically this many years
About 10–20 years