neurodevelopmental disorder with involuntary movements

Neurodevelopmental Disorder with Involuntary Movements (NEDIM)

NEDIM, also known as Neurodevelopmental Disorder with Involuntary Movements, is a rare genetic disorder characterized by delayed psychomotor development and infantile or childhood onset of hyperkinetic involuntary movements. These movements can be severe, affecting basic functions like sitting, walking, speaking, and eating.

Key Features:

• Delayed psychomotor development
• Infantile or childhood onset of hyperkinetic involuntary movements (chorea and athetosis)
• Severe motor and cognitive impairment in some cases
• Self-injurious behavior and epileptic encephalopathy can occur
• Triggers like stress, illness, or high temperature can worsen the movements

Causes:

NEDIM is caused by heterozygous mutation in the GNAO1 gene on chromosome 16q13. This genetic mutation affects the way the brain develops, leading to progressive inability to use muscles for eye and body movements and language.

Phenotypes:

The disorder can manifest with a wide range of clinical symptoms, from severe motor and cognitive impairment to milder phenotypes featuring moderate developmental delay associated with complex stereotypies, mainly facial dyskinesia, and mild epilepsy.

References:

• [1] NEDIM is characterized by delayed psychomotor development and infantile or childhood onset of hyperkinetic involuntary movements, including chorea and athetosis. (Source: #10)
• [2-3] The abnormal movements can be severe, sometimes resulting in inability to sit, walk, speak, or eat. Triggers like stress, illness, or high temperature can worsen the movements. (Sources: #2 & #3)
• [4] NEDIM is a neurodevelopmental disorder with involuntary movements, characterized by delayed psychomotor development and hyperkinetic movements like chorea and athetosis. (Source: #3)
• [5-6] The disorder can cause severe motor and cognitive impairment, self-injurious behavior, and epileptic encephalopathy in some cases. (Sources: #4 & #12)

Based on the provided context, here are some signs and symptoms of neurodevelopmental disorders with involuntary movements:

• Repetitive and unpredictable movements: These can include slow movement (bradykinesia), muscle rigidity, tremors, and an inability to hold the body upright and balanced (postural instability) [1].
• Tics and repetitive sounds: People with certain neurodevelopmental disorders may experience tics, which are sudden, brief, intermittent movements or sounds. These can range from mild to severe and may interfere with communication, daily functioning, and quality of life [11].
• Dystonia and choreoathetosis: Movement disorders characterized by dystonia (involuntary muscle contractions) and choreoathetosis (involuntary, unpredictable movements) are common in certain neurodevelopmental disorders. These can affect the whole body and may be exacerbated by intercurrent illness, emotional stress, or voluntary movements [12].
• Chorea: This is a movement disorder that causes involuntary, unpredictable muscle movements, often making the person look like they're dancing or restless. It's commonly seen in Huntington's disease [13].

Some specific neurodevelopmental disorders associated with these symptoms include:

• Rett syndrome: Characterized by slowed head growth, abnormal hand movements, hyperventilating, screaming or crying for no apparent reason, and problems with coordination and speech [4].
• Tourette syndrome: Marked by tics, which are sudden, brief, intermittent movements or sounds. These can range from mild to severe and may interfere with communication, daily functioning, and quality of life [11].
• Dyskinesia: This is an involuntary neurological movement disorder caused by the use of dopamine receptor blocking drugs. Symptoms include rapid blinking, waving of the arms or hands, sticking out the tongue, random movements of the lips, tongue, or jaw, and other similar movements [6].

These symptoms can vary in severity and may be accompanied by other signs and symptoms specific to each neurodevelopmental disorder.

References:

[1] Context result 1 [4] Context result 4 [6] Context result 6 [11] Context result 11 [12] Context result 12 [13] Context result 13

Diagnostic Tests for Neurodevelopmental Disorder with Involuntary Movements

Diagnosing a neurodevelopmental disorder with involuntary movements, such as NEDIM (Neurodevelopmental Disorder with Involuntary Movements), involves a comprehensive evaluation of the individual's medical history, physical examination, and laboratory tests.

• Clinical Evaluation: A neurological exam is typically performed to assess the individual's motor skills, coordination, and balance. This may include an assessment of muscle tone, reflexes, and involuntary movements such as chorea (involuntary dance-like movements) [3].
• Imaging Tests: Imaging studies, such as MRI or CT scans, may be ordered to rule out other conditions that could be causing the symptoms, such as structural abnormalities in the brain [2].
• Electromyography (EMG): EMG is a test that measures the electrical activity of muscles and can help diagnose muscle disorders, including those associated with NEDIM [2].

In addition to these tests, genetic testing may also be considered to identify any underlying genetic mutations that could be contributing to the disorder. For example, the Invitae Dystonia Comprehensive Panel analyzes genes associated with dystonia, a group of conditions characterized by sustained muscle contractions [8].

It's worth noting that diagnosis is typically made based on a combination of these tests and a thorough clinical evaluation, rather than relying on any single test result.

References:

[2] NYU Langone doctors use a neurological exam, an imaging test, and electromyography to diagnose movement disorders. Learn more. [3] NEDIM is a neurodevelopmental disorder with involuntary movements, characterized by delayed psychomotor development and hyperkinetic movements like chorea and ... [8] The Invitae Dystonia Comprehensive Panel analyzes genes that are associated with dystonia, a group of conditions characterized by sustained muscle contractions.

Treatment Options for Neurodevelopmental Disorder with Involuntary Movements

Individuals affected by neurodevelopmental disorders, such as those characterized by involuntary movements, may benefit from various treatment approaches. While the specific treatment plan will depend on the individual's unique needs and circumstances, several medications have been found to be effective in managing symptoms.

• Anti-seizure medications: In some cases, a low dose of anti-seizure medication can help alleviate symptoms of involuntary movements, even if seizures are not present. This approach is often used in conjunction with other treatments.
• Calcium-channel modulators: Mutations in the GNAO1 gene, which can lead to neurodevelopmental disorders and involuntary movements, may be improved using calcium-channel modulators.
• Botulinum toxin or Botox injections: Injections of botulinum toxin or Botox have been shown to help reduce or limit involuntary movements, particularly those affecting the face, neck, and extremities.
• Stimulants: Stimulants like amphetamine and methylphenidate are effective treatment modalities for attention deficit hyperactivity disorder (ADHD), which can sometimes co-occur with neurodevelopmental disorders.

Medications Proven to be Effective in Treating Tics

Some medications have been proven to be most effective in treating tics, including:

• Haloperidol and pimozide: These neuroleptics have been shown to be effective in managing symptoms of tics.
• Tetrabenazine: This medication is primarily used for the treatment of chorea and other hyperkinetic movement disorders.

Other Treatment Options

In addition to medications, other treatment options may include:

• Physical therapy: Physical therapy can help improve motor skills and reduce symptoms of involuntary movements.
• Occupational therapy: Occupational therapy can help individuals with neurodevelopmental disorders develop daily living skills and adapt to their condition.
• Speech therapy: Speech therapy can help individuals with communication difficulties related to their neurodevelopmental disorder.

References

1. [4] Some of the medications proven to be most effective in treating tics are neuroleptics, such as haloperidol and pimozide.
2. [6] Tetrabenazine is mainly used for the treatment of chorea and other hyperkinetic movement disorders in the adult and pediatric population.
3. [8] Stimulants, such as amphetamine and methylphenidate, are one of the effective treatment modalities for attention deficit hyperactivity disorder (ADHD).
4. [10] Mutations in GNAO1 typically result in neurodevelopmental disorders, including involuntary movements. They may be improved using calcium-channel modulators.
5. [12] Antipsychotic-related movement disorders: drug-induced parkinsonism vs. tardive dyskinesia – key differences in pathophysiology and clinical management.

The differential diagnosis for neurodevelopmental disorders with involuntary movements can be complex and involves ruling out various conditions that may present with similar symptoms.

According to the search results, hyperkinetic movement disorders are characterized by abnormal repetitive involuntary movements (chorea, dystonia, athetosis, myoclonus, stereotypies, tics, and others) [2]. These disorders can be difficult to diagnose due to their complex and rare nature, making misdiagnosis and ineffective management more likely [3].

In pediatric movement disorders, repeated and sometimes uncontrolled movements with psychological or physiological causes are observed. Symptoms include involuntary movements of the limbs, face, neck, and trunk [4].

Choreiform movement disorders are characterized by involuntary, rapid, irregular, and unpredictable movements of the limbs, face, neck, and trunk [5]. The differential diagnosis for chorea includes stereotypic movement disorder, tic disorders, and OCD, which can be challenging due to overlapping symptoms [6].

Dyskinesia refers to uncontrolled, involuntary muscle movements ranging from shakes, tics, and tremors to full-body movements [7]. Tardive dyskinesia (TD) is an involuntary neurological movement disorder caused by the use of dopamine receptor blocking drugs [8].

Hyperkinetic disorders are characterized by abnormal involuntary movements and include dystonia, chorea, athetosis, stereotypies, myoclonus, and others [9]. To determine the nature of the involuntary movements, features such as rhythmicity, speed, duration, pattern, induction, complexity, and suppressibility should be assessed [10].

In addition to these conditions, other differential diagnoses for neurodevelopmental disorders with involuntary movements include hypokinesia, akinesia/bradykinesia (Parkinsonism), catatonia, psychomotor depression, freezing, and Tourette syndrome [11-15].