Summary about Disease
The Westphal variant of Huntington's disease is a less common form of Huntington's disease (HD), typically characterized by early onset (often in childhood or adolescence) and a predominance of rigidity and akinesia (slowness of movement) over chorea (involuntary, jerky movements). It also frequently involves seizures and cognitive decline that may appear earlier and progress more rapidly compared to the adult-onset form of HD.
Symptoms
Rigidity: Stiffness and inflexibility of muscles.
Akinesia/Bradykinesia: Slowness or absence of movement.
Chorea: Involuntary, jerky movements (may be present, but often less prominent than in the adult-onset form).
Seizures: A common symptom, more so than in the adult-onset form.
Cognitive Decline: Problems with memory, thinking, and judgment, which may appear earlier and progress faster.
Speech Problems: Dysarthria (difficulty speaking).
Swallowing Problems: Dysphagia (difficulty swallowing).
Motor skill delay or regression
Causes
The Westphal variant of Huntington's disease, like all forms of HD, is caused by an expanded CAG repeat in the HTT gene (Huntingtin gene) on chromosome 4. This expansion leads to the production of an abnormal Huntingtin protein. In the Westphal variant, the CAG repeat length is often longer than that found in adult-onset cases. Huntington's disease is inherited in an autosomal dominant manner, meaning only one copy of the mutated gene is needed to cause the disease.
Medicine Used
There is no cure for Huntington's disease, including the Westphal variant. Treatment focuses on managing symptoms and improving quality of life. Medications may include:
Tetrabenazine or Deutetrabenazine: To manage chorea.
Antipsychotics: To help with chorea, behavioral problems, and psychosis.
Antidepressants: To treat depression and other mood disorders.
Anticonvulsants: To control seizures.
Muscle relaxants: To alleviate rigidity and muscle spasms.
Other medications: To manage specific symptoms like sleep disturbances or anxiety.
Physical, occupational, and speech therapy can help maintain function and improve quality of life.
Is Communicable
No, Huntington's disease, including the Westphal variant, is not communicable. It is a genetic disorder caused by a gene mutation and cannot be spread from person to person through any means.
Precautions
There are no precautions to prevent "catching" Huntington's disease, as it is genetic. Precautions focus on managing symptoms and providing support to affected individuals and their families:
Genetic Counseling: Important for families with a history of HD to understand the risks of inheriting the disease.
Regular Medical Care: Monitoring and management of symptoms by a neurologist and other specialists.
Home Safety Modifications: To prevent falls and injuries due to motor difficulties.
Nutritional Support: Addressing swallowing difficulties and ensuring adequate nutrition.
Mental Health Support: Counseling and therapy for individuals and families to cope with the emotional and psychological challenges of HD.
How long does an outbreak last?
Huntington's disease, including the Westphal variant, is not an "outbreak." It's a progressive, genetic disease. The disease progresses over many years, typically 10-25 years after symptom onset. There is no "outbreak" period.
How is it diagnosed?
Diagnosis typically involves:
Neurological Examination: To assess motor skills, cognitive function, and reflexes.
Family History: Assessing for a family history of Huntington's disease or related neurological disorders.
Genetic Testing: A blood test to analyze the HTT gene for the presence of an expanded CAG repeat. This is the definitive diagnostic test.
Brain Imaging: MRI or CT scans may be used to rule out other conditions and to assess brain changes characteristic of HD, but they are not definitive for diagnosis.
Clinical Assessment: To rule out other neurological disorders that may mimic HD.
Timeline of Symptoms
The timeline of symptom progression varies significantly among individuals. However, a general progression is as follows:
Early Stages: Subtle changes in motor skills (e.g., clumsiness), cognitive function (e.g., difficulty concentrating), and mood (e.g., irritability). Seizures may be an early symptom.
Middle Stages: More pronounced motor problems (e.g., rigidity, bradykinesia, chorea), worsening cognitive decline (e.g., memory loss, impaired judgment), speech and swallowing difficulties, and behavioral changes.
Late Stages: Severe motor impairment, significant cognitive decline, dependence on others for care, and increased risk of complications such as pneumonia and falls. In Westphal's the progress is generally faster than typical Huntington's disease.
Important Considerations
Genetic Testing: Predictive genetic testing is available for individuals at risk of inheriting HD. This testing should be done with careful consideration and genetic counseling.
Ethical Considerations: Testing minors for adult-onset genetic disorders raises ethical concerns. Predictive testing is generally not recommended for children.
Support Services: Huntington's Disease Society of America (HDSA) and other organizations offer support and resources for individuals with HD and their families.
Research: Ongoing research is focused on developing new treatments to slow the progression of HD and improve the quality of life for affected individuals.
Palliative Care: Providing comfort and support during the later stages of the illness is critical.