Huntington’s disease

Diagnosis  

An initial assessment of Huntington’s disease relies mainly on your responses to inquiries, a comprehensive physical evaluation, an exploration of your family’s medical history, as well as neurological and psychiatric assessments.  

Neurological examination and testing 

The neurologist will inquire about your condition and perform basic assessments in the following areas: 

• Motor functions, including reflexes, muscle strength, and balance 
• Sensory perceptions, such as touch, vision, and hearing 
• Psychological aspects like mood and mental well–being 

Additionally, the neurologist might administer standardized assessments to evaluate: 

• Memory capabilities 
• Logical thinking 
• Cognitive flexibility 
• Proficiency in language 
• Spatial reasoning skills 

Psychiatric evaluation 

The patient will likely receive a referral to a psychiatrist for an evaluation aimed at identifying various factors that might play a role in their diagnosis. These factors include: 

• Emotional state 
• Patterns of behaviors 
• Quality of judgment 
• Coping skills 
• Signs of disordered thinking 
• Evidence of substance abuse 

Brain-imaging and function tests

Your healthcare provider may order brain–imaging tests, such as Magnetic Resonance Imaging (MRI) or Computed Tomography (CT) scans, to assess both the structure and function of the brain. Through these imaging technologies, detailed images of the brain are obtained, potentially revealing any changes occurring in areas affected by Huntington’s disease. However, it’s important to note that these changes might not be evident early in the progression of the disease. Additionally, these tests can be utilized to rule out the presence of other conditions that could be contributing to the observed symptoms. 

Genetic counseling and testing

If the symptoms indicate Huntington’s disease with significant certainty, your healthcare provider might advise undergoing a genetic test to identify the presence of the abnormal gene associated with the condition. This test serves to confirm the diagnosis, and it holds particular value in cases where there isn’t a documented family history of Huntington’s disease or when no other family member’s diagnosis has been verified through genetic testing. It’s important to note that while the test can confirm the presence of the gene, it may not offer insights for shaping a treatment plan. Prior to undergoing this test, a genetic counselor will provide a comprehensive explanation of the advantages and disadvantages of learning the test results, along with addressing inquiries about the inheritance patterns linked to Huntington’s disease. 

Predictive genetic test 

Predictive testing, involving genetic tests for those with familial disease history but lacking symptoms, doesn’t indicate disease onset timing or initial symptom presentation. Motivations for testing include stress reduction through eliminating uncertainty and consideration prior to parenthood. 

Treatment 

Although Huntington’s disease progression can’t be changed, medications can ease movement and psychiatric symptoms. Various interventions can also help with adapting to changing abilities temporarily. Treatment goals and medications may change as the disease advances, considering potential side effects. 

• Medications for movement disorders 
• Drugs to control movement: Tetrabenazine and deutetrabenazine are FDA–approved to manage involuntary jerking and writhing movements (chorea) in Huntington’s disease. These drugs do not affect disease progression but may lead to side effects like drowsiness, restlessness, and potential worsening of psychiatric conditions. 
• Antipsychotic drugs: Certain medications, like haloperidol and fluphenazine, can suppress movements and may be useful for chorea treatment. However, these drugs can worsen involuntary contractions, restlessness, and drowsiness. Drugs with fewer side effects, such as olanzapine and aripiprazole, should still be approached with caution due to the potential for symptom worsening. 
• Other medications: Medications that could potentially help suppress chorea comprise amantadine, levetiracetam, and clonazepam. Nevertheless, the presence of side effects might restrict their usage. 
• Medications for psychiatric disorders: Treatment approaches for psychiatric disorders vary based on the specific conditions and symptoms. Potential options include: 
• Antidepressants: This category includes medications such as citalopram, escitalopram, fluoxetine, and sertraline. These drugs might also offer some relief for obsessive–compulsive disorder symptoms. Possible side effects encompass nausea, diarrhea, drowsiness, and low blood pressure. 
• Antipsychotic medications: Examples like quetiapine and olanzapine can help manage violent outbursts, agitation, and other symptoms associated with mood disorders or psychosis. However, these medications might also induce various movement disorders. 
• Mood–stabilizing agents: These medications aid in preventing the extreme mood swings seen in bipolar disorder. Among them are anticonvulsants such as divalproex, carbamazepine, and lamotrigine. 
• Psychotherapy: A psychotherapist, whether it’s a psychiatrist, psychologist, or clinical social worker, can offer talk therapy to assist with behavioral issues, create effective coping strategies, guide individuals through the stages of the condition, and facilitate communication among family members. 
• Speech therapy: Huntington’s disease can greatly impact the coordination of muscles in the mouth and throat, which are crucial for functions like speech, eating, and swallowing. Seeking assistance from a speech therapist can lead to enhanced speech clarity and the acquisition of techniques like utilizing communication tools such as a board featuring common daily activities and items. Additionally, speech therapists are adept at managing challenges related to the muscles involved in eating and swallowing. 
• Physical therapy: A physical therapist can educate you in safe exercises that boost strength, flexibility, balance, and coordination. These exercises maintain mobility and potentially lower fall risks. They also teach proper posture and support use, mitigating certain movement issues. If a walker or wheelchair is needed, the therapist guides their suitable use and posture, adapting exercise routines accordingly.
• Occupational therapy: An occupational therapist can assist individuals with Huntington’s disease, along with their families and caregivers, by offering guidance on using assistive devices to enhance functional abilities. These strategies include the integration of handrails at home, the use of specialized tools for activities such as bathing and dressing, and the adoption of adapted eating and drinking utensils designed for individuals with limited fine motor skills.

Doctors who treat this condition