neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures

Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures (NEDAMMS)

NEDAMMS is a rare genetic neurological disorder characterized by a combination of symptoms that affect various aspects of development. The description of this condition includes:

• Regression: A decline in developmental milestones, such as loss of previously acquired skills or abilities.
• Abnormal movements: Extra movements that can appear shaky, wiggly, dance-like, twisting, or stiff, which can be a result of muscle weakness or coordination problems.
• Loss of speech: Difficulty with articulation and communication, leading to impaired language development.
• Seizures: Recurring episodes of abnormal brain activity that can cause convulsions, loss of consciousness, or changes in behavior.

According to the Orphanet summary, NEDAMMS is associated with pathogenic variants in the IRF2BPL gene. This genetic mutation leads to a range of symptoms, including those mentioned above.

Key Features:

• A rare genetic neurological disorder
• Characterized by regression, abnormal movements, loss of speech, and seizures
• Associated with pathogenic variants in the IRF2BPL gene
• Can cause significant developmental delays and impairments

References:

[12] - Orphanet summary for Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures. [13] - Background information on NEDAMMS by ME Liah (2023). [14] - IRF2BPL-Related Disorder, Causing Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech and Seizures (NEDAMSS) Is Characterized by... by S Venkateswaran.

Common Signs and Symptoms of Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures

The neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures (NEDAMSS) presents with a range of symptoms that can vary in severity and progression. Some of the common signs and symptoms include:

• Extra movements: Irregular or involuntary movements that can be noticeable to others [2].
• Trouble controlling movements: Difficulty coordinating body movements, which can lead to accidents or injuries [2].
• Seizures: Sudden, uncontrolled electrical activity in the brain that can cause convulsions, muscle stiffness, or loss of consciousness [3][8].
• Loss of developmental skills: Regression in skills such as walking, talking, and using hands for activities like writing or drawing [1][4][9].
• Trouble swallowing: Difficulty eating or drinking due to abnormal movements or coordination problems [2].

Additionally, some individuals with NEDAMSS may experience:

• Slowed head growth: A decrease in the rate of head growth, which can be a sign of developmental regression [7].
• Abnormal hand movements: Unusual or involuntary movements of the hands, such as wringing or clapping [7].
• Hyperventilating: Rapid breathing that can lead to feelings of anxiety or panic [7].
• Screaming or crying for no apparent reason: Episodes of intense emotional distress without a clear cause [7].

It's essential to note that each individual with NEDAMSS may experience a unique combination and severity of symptoms. If you suspect someone has this condition, it's crucial to consult with a qualified healthcare professional for an accurate diagnosis and treatment plan.

References: [1] IRF2BPL-Related Disorder, Causing Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech and Seizures (NEDAMSS) Is Characterized by ... [2] SIGNS AND SYMPTOMS · Extra movements. · Trouble controlling movements. · Seizures. · Loss of developmental skills. · Trouble swallowing. [3] A rare genetic neurological disorder presents with severe global neurodevelopmental regression, loss of independent walking, language, and motor skills, leading ... [4] by ME Liah · 2023 — Background Neurodevelopmental disorder with regression, abnormal movements, loss of speech and seizures (NEDAMMS) was associated with pathogenic variants in ... [7] Symptoms of Rett syndrome occur, such as slowed head growth, abnormal hand movements, hyperventilating, screaming or crying for no apparent reason, problems ... [8] Sep 3, 2024 — Neurodevelopmental disorder with regression, abnormal movements, loss of speech and seizures ... epilepsy, and movement disorder were severe. [9] A rare genetic neurological disorder characterized by childhood onset of severe global neurodevelopmental regression with eventual loss of independent walking ...

Based on the search results, it appears that there are several diagnostic tests available for a neurodevelopmental disorder characterized by regression, abnormal movements, loss of speech, and seizures.

• Blood, urine, or saliva tests may be used to diagnose this condition [1].
• These tests can help identify neurodevelopmental disorders, including the one in question [3].
• A genetics test guide also mentions this condition, along with other diagnostic tests [6] and [9].

It's worth noting that a rare severe, X-linked, neurodevelopmental disorder characterized by rapid developmental regression, seizures, stereotypic movements, and loss of speech has been identified, and diagnostic tests (205) are available for it [7].

Developmental regression is also described as when a child loses previously established skills, such as the ability to speak words [8].

It's not clear how many tests are specifically designed for this condition, but there are 10 tests in the database for this condition [1].

References: [1] - Context result 1 [3] - Context result 2 [6] - Context result 9 [7] - Context result 7 [8] - Context result 8

Current Understanding of NEDAMSS Treatment

NEDAMSS (Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures) is a rare neurological disorder with no cure or established treatment. However, research suggests that CuATSM (copper(II)-diacetyl-bis(N4-methylthiosemicarbazonato)) treatment may improve cellular respiration and neuronal survival in patients with NEDAMSS-derived cells [1].

Limited Treatment Options

As of now, there is no specific drug or treatment regimen approved for NEDAMSS. The disorder's rarity and limited research make it challenging to develop targeted therapies. However, studies on related disorders, such as IRF2BPL-related regressive neurodevelopmental disorder-dystonia, may provide some insights into potential treatments [6].

Gene Therapies and Future Directions

Research suggests that gene therapies could potentially prevent developmental delay and epileptic activity in individuals with NEDAMSS by restoring correct protein function early on [5]. This area of research holds promise for future treatment options.

Consulting a Healthcare Professional

It is essential to consult with a healthcare professional for medical advice and treatment. They can provide personalized guidance based on the individual's specific needs and circumstances.

References:

[1] Derived cells from patients with NEDAMSS exhibit perturbed cellular respiration and poor neuronal survival, both of which can be improved with CuATSM treatment. [5] By restoring correct protein function early on, gene therapies provide the possibility of preventing both developmental delay and epileptic activity (Wykes & ...). [6] IRF2BPL-related regressive neurodevelopmental disorder-dystonia is a related disorder that may provide some insights into potential treatments for NEDAMSS.

Differential Diagnosis of NEDAMSS

NEDAMSS (Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures) is a rare severe X-linked neurodevelopmental disorder. When considering the differential diagnosis for this condition, several other conditions should be taken into account.

• Landau-Kleffner Syndrome: This is a rare neurological disorder characterized by a loss of language skills (aphasia) in children who previously had normal or near-normal language abilities. It can also involve seizures and abnormal movements [5].
• Autism Spectrum Disorder: While not directly related to NEDAMSS, autism spectrum disorder can also present with developmental regression, including loss of speech and social skills.
• Rett Syndrome: This is a genetic disorder that affects brain development, leading to severe mental and physical disability. It is characterized by rapid developmental regression in infancy, including loss of purposeful hand movements [10].
• Other Neurodevelopmental Disorders: Conditions such as Angelman syndrome, Prader-Willi syndrome, and Fragile X syndrome can also present with similar symptoms.

Key Features for Differential Diagnosis

When differentiating NEDAMSS from other neurodevelopmental disorders, the following key features should be considered:

• X-linked inheritance pattern: NEDAMSS is inherited in an X-linked manner, which means it is more likely to affect males than females.
• Rapid developmental regression: Children with NEDAMSS often experience rapid loss of skills, particularly in speech and motor abilities.
• Seizures and abnormal movements: Seizures and abnormal movements are common features of NEDAMSS.

References

[1] IRF2BPL-Related Disorder, Causing Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech and Seizures (NEDAMSS) Is Characterized by [1]. [4] This condition was named “neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures” – NEDAMSS (MIM #618088). It has [4]. [5] Epilepsy is also associated with developmental regression in neurodevelopmental conditions such as autism. ... Differential diagnosis of Landau-kleffner syndrome [5]. [10] A rare severe, X-linked, neurodevelopmental disorder characterized by rapid developmental regression in infancy, partial or complete loss of purposeful hand movements [10].