Familial Dyskinesia: Symptoms, Causes, Diagnosis and Treatment

Written by Medicover Team and Medically Reviewed by Dr Krishna Haskar Dhanyamraju , Neurologists

Causes
Find a Doctor
Diagnosis
Treatment
FAQs
Book an Appointment

1. Causes 2. Find a Doctor 3. Diagnosis 4. Treatment 5. FAQs

Familial dyskinesia is a rare inherited neurological movement disorder characterized by involuntary, repetitive, or abnormal movements that may affect the face, arms, legs, or trunk. Symptoms can occur in episodes or be persistent, depending on the specific genetic condition. Early diagnosis, genetic evaluation, and appropriate treatment can help manage symptoms, improve mobility, and enhance quality of life.

What are the Types of Familial Dyskinesia?

Familial Dyskinesia is classified according to the pattern and triggers of abnormal movements.

Familial Paroxysmal Kinesigenic Dyskinesia (PKD): Brief episodes triggered by sudden movement or startle.
Familial Paroxysmal Non-Kinesigenic Dyskinesia (PNKD): Episodes occur without sudden movement and may be triggered by stress, alcohol, caffeine, or fatigue.
Familial Paroxysmal Exercise-Induced Dyskinesia (PED): Abnormal movements develop after prolonged physical activity.

What are the Symptoms of Familial Dyskinesia?

Familial Dyskinesia is characterized by involuntary movements affecting specific areas of the body.

Involuntary movements
Facial grimacing
Tongue protrusion
Choreiform movements
Dysarthria
Impaired coordination

What are the Causes of Familial Dyskinesia?

Familial dyskinesia is primarily caused by genetic mutations that disrupt the brain's ability to regulate and coordinate movement. These changes affect areas of the brain involved in motor control, leading to involuntary movements such as spasms, tremors, or abnormal postures.

Genetic Mutations: Alterations in specific genes (such as PRRT2 and others) can impair normal signaling in the brain, resulting in abnormal movement patterns.
Inherited Conditions: Familial dyskinesia is often passed down in families, commonly through an autosomal dominant pattern, meaning one copy of the altered gene can cause the condition.
Neurological Dysfunction: Abnormalities in brain regions like the basal ganglia stroke, which are responsible for movement regulation, contribute to the development of dyskinesia.
Ion Channel Abnormalities: Some forms are linked to disruptions in ion channels, affecting how nerve cells communicate and triggering episodic or continuous movements.
Neurochemical Imbalance: Imbalances in neurotransmitters such as dopamine can interfere with motor control and worsen symptoms.

When to See a Doctor for Familial Dyskinesia?

Recurrent episodes of involuntary movements, muscle stiffness, or abnormal posturing, especially with a family history of similar symptoms, should be evaluated by a neurologists. Early diagnosis helps identify the underlying cause and guides appropriate treatment.

You should see a doctor if you have:

Repeated episodes of involuntary or abnormal movements.
Movement problems triggered by exercise or sudden motion.
Difficulty walking or performing daily activities.
A family history of inherited movement disorders.

Get medical help immediately if:

Difficulty breathing or swallowing during an episode.
Loss of consciousness or prolonged abnormal movements.
Sudden severe weakness or new neurological symptoms.

These could be signs of a serious complication like Familial Dyskinesia, which needs urgent care.

Find Neurologists for Familial Dyskinesia Treatment Near You

How Is Familial Dyskinesia Diagnosed?

Familial Dyskinesia is typically diagnosed through a combination of medical history evaluation, physical examination, and specialized tests to assess movement abnormalities in affected individuals.

Genetic testing
Neurological examination
Family medical history analysis
Imaging tests (such as MRI or CT scans)

What are the Treatment for Familial Dyskinesia?

Familial Dyskinesia is typically managed through a combination of medications and therapies to help control symptoms and improve quality of life.

Medications: Familial Dyskinesia can be managed with medications such as antipsychotics or benzodiazepines to help control abnormal movements and improve quality of life.
Physical Therapy: Physical therapy can be beneficial in improving muscle control and coordination in individuals with Familial Dyskinesia, helping to enhance mobility and reduce symptoms.
Speech Therapy: Speech therapy can help individuals with Familial Dyskinesia improve their communication skills, speech clarity, and swallow function, addressing any speech or swallowing difficulties associated with the condition.
Occupational Therapy: Occupational therapy focuses on improving daily living skills, fine motor skills, and independence in individuals with Familial Dyskinesia, enhancing their ability to perform activities of daily living.
Surgical Interventions: In some cases, deep brain stimulation surgery may be considered for individuals with severe symptoms of Familial Dyskinesia that do not respond well to other treatments, aiming to improve motor function and quality of life.

Your health is everything - prioritize your well-being today.

Consult Familial Dyskinesia Doctors Today

What is the Recovery Process for Familial Dyskinesia?

Recovery focuses on long-term management, as this is a genetic condition requiring continuous care and monitoring.

Regular follow-up with healthcare providers
Consistent use of prescribed medications
Ongoing physical and speech therapy
Lifestyle adjustments to improve daily functioning

Frequently Asked Questions

1. What is Familial Dyskinesia?

Familial Dyskinesia is a rare genetic disorder characterized by involuntary, abnormal movements that can affect the face, limbs, and trunk.

2. What are the symptoms of Familial Dyskinesia?

Symptoms of Familial Dyskinesia may include chorea (jerky movements), dystonia (sustained muscle contractions), tremors, and difficulty with voluntary movements.

3. How is Familial Dyskinesia diagnosed?

Diagnosis of Familial Dyskinesia typically involves a thorough medical history, physical examination, genetic testing, and possibly imaging studies to rule out other conditions.

4. Is there a cure for Familial Dyskinesia?

Currently, there is no cure for Familial Dyskinesia. Treatment focuses on managing symptoms and improving quality of life through medications and therapy.

5. What is the prognosis for individuals with Familial Dyskinesia?

The prognosis for individuals with Familial Dyskinesia varies depending on the severity of symptoms and response to treatment. Early diagnosis and management can help improve outcomes.