Which are the symptoms of Benign Hereditary Chorea BHC?

Symptoms of Benign Hereditary Chorea (BHC)

Benign Hereditary Chorea (BHC), also known as benign hereditary chorea or Huntington's disease-like 2 (HDL2), is a rare genetic disorder that affects the nervous system. It is characterized by involuntary, jerky movements (chorea) that primarily affect the limbs, face, and trunk. BHC is inherited in an autosomal dominant manner, meaning that a person only needs to inherit one copy of the mutated gene from either parent to develop the condition.

1. Chorea: The hallmark symptom of BHC is chorea, which refers to rapid, involuntary, and irregular movements that can affect various parts of the body. These movements may appear as jerks, twitches, or writhing motions. Chorea typically begins in childhood or adolescence and gradually worsens over time. The severity of chorea can vary among affected individuals.

2. Motor Impairment: As BHC progresses, individuals may experience difficulties with coordination, balance, and fine motor skills. These motor impairments can lead to problems with activities of daily living, such as writing, eating, and dressing.

3. Cognitive Changes: In some cases, BHC may be associated with cognitive changes, including difficulties with memory, attention, and problem-solving. However, the cognitive symptoms are usually milder compared to those seen in Huntington's disease.

4. Behavioral and Psychiatric Symptoms: Individuals with BHC may also exhibit behavioral and psychiatric symptoms. These can include irritability, mood swings, depression, anxiety, and obsessive-compulsive behaviors. Psychiatric symptoms may precede the onset of motor symptoms in some cases.

5. Speech and Swallowing Difficulties: As BHC progresses, individuals may experience speech and swallowing difficulties. Speech may become slurred or difficult to understand, and swallowing problems can lead to weight loss and malnutrition if not properly managed.

6. Tremors: While chorea is the primary movement abnormality in BHC, some individuals may also develop tremors. Tremors are rhythmic, involuntary shaking movements that can affect the hands, arms, legs, or other parts of the body.

7. Eye Abnormalities: Some individuals with BHC may experience eye abnormalities, such as rapid, involuntary eye movements (nystagmus) or difficulty controlling eye movements (oculomotor apraxia).

8. Progression: BHC is generally considered a slowly progressive disorder, with symptoms worsening over several years. However, the rate of progression can vary among individuals, and some may experience periods of stability or even temporary improvement.

9. Normal Life Expectancy: Unlike Huntington's disease, BHC does not typically affect life expectancy. Individuals with BHC can have a normal lifespan, although the impact of the condition on daily functioning and quality of life can vary.

10. Genetic Testing: Genetic testing is necessary to confirm a diagnosis of BHC. It involves analyzing the HTT gene, which is responsible for producing the huntingtin protein. Mutations in the HTT gene are associated with BHC and other related conditions.

It is important to note that the symptoms and their severity can vary widely among individuals with BHC. If you or someone you know is experiencing any of these symptoms, it is crucial to consult with a healthcare professional for a proper diagnosis and appropriate management.