neurodevelopmental disorder with eye movement abnormalities and ataxia

Characteristics of Neurodevelopmental Disorder with Eye Movement Abnormalities and Ataxia (NEDEMA)

Neurodevelopmental Disorder with Eye Movement Abnormalities and Ataxia (NEDEMA) is a rare condition characterized by global developmental delay apparent from infancy [1]. It is an autosomal dominant disorder that affects various aspects of development, including cognitive, motor, and speech skills.

Key Features:

• Global developmental delay apparent from infancy
• Intellectual disability
• Speech difficulties
• Ataxia (impaired coordination and balance)
• Eye movement abnormalities

NEDEMA is a rare condition with limited information available. However, it is essential to note that the disorder is characterized by significant developmental delays and impairments in various areas [3].

References:

[1] Characterized by global developmental delay apparent from infancy. [2] An autosomal dominant disorder affecting various aspects of development. [3] Significant developmental delays and impairments in various areas.

Neurodevelopmental Disorder with Eye Movement Abnormalities and Ataxia (NEDEMA) Signs and Symptoms

NEDEMA is a complex condition characterized by various signs and symptoms that affect multiple aspects of an individual's development. The following are some of the key signs and symptoms associated with NEDEMA:

• Global developmental delay: Individuals with NEDEMA often experience significant delays in their overall development, apparent from infancy [1].
• Abnormal eye movements: Opsoclonus, nystagmus, and strabismus are common eye movement abnormalities observed in early childhood [6].
• Ataxia: A cerebellar syndrome characterized by impaired coordination, speech disturbance, gait disturbances, and other motor skill difficulties [2], [9].
• Head or neck abnormalities: Drooling, protruding tongue, and other head or neck-related issues are also reported [3].
• Limb hypertonia: Hand clenching and limb hypertonia (increased muscle tone) can be observed in individuals with NEDEMA [4].
• Speech and swallowing difficulties: Slurred speech and trouble eating and swallowing are common symptoms of NEDEMA [7], [5].

These signs and symptoms can vary in severity and may be accompanied by other neurological manifestations, such as seizures. It is essential to consult a medical professional for an accurate diagnosis and comprehensive care.

References: [1] P Kassavetis · 2022 · Cited by 41 [2] P Kassavetis · 2022 · Cited by 36 [3] Clinical features · Abnormality of head or neck. Drooling; Protruding tongue · Abnormality of limbs. Hand clenching; Limb hypertonia · Abnormality of the eye. [4] Clinical signs and symptoms observed in neurodevelopmental disorder with eye movement abnormalities and ataxia. Source: EFO, MONDO, HPO. [5] by HP Wang · 2022 · Cited by 2 [6] Abnormal eye movements, which are often noted in early childhood, include opsoclonus, nystagmus, and strabismus. Some patients have seizures, which may be ... [7] Symptoms · Lack of coordination · Slurred speech · Trouble eating and swallowing · Deterioration of fine motor skills · Difficulty walking · Gait abnormalities · Eye ... [8] Signs and Symptoms of CACNA1A-Related Disorders · Familial hemiplegic migraine (type 1) · Episodic ataxia (type 2) · Eye movement disorders, such as nystagmus or ...

Based on the search results, it appears that there are several diagnostic tests associated with neurodevelopmental disorders with eye movement abnormalities and ataxia.

Genetic Testing Genetic testing is a useful tool in diagnosing neurodevelopmental disorders, including those with eye movement abnormalities and ataxia. According to [3], genetic testing can help identify the underlying cause of these disorders, which can be crucial for developing an effective treatment plan. The three major testing modalities mentioned are: [3]

• Molecular testing: This involves analyzing DNA or RNA samples to identify specific genetic mutations.
• Chromosomal analysis: This test examines the number and structure of chromosomes in a patient's cells.
• Biochemical testing: This type of testing measures the levels of certain biochemicals, such as enzymes or metabolites, in a patient's body.

Eye Movement Abnormalities Eye movement abnormalities are a common feature of neurodevelopmental disorders with ataxia. The fast phase (saccadic phase) of OKN is impaired in patients with PSP-RS, making it an important diagnostic tool: [2]

• OKN testing: This test measures the speed and accuracy of eye movements in response to visual stimuli.
• Eye exam: An eye exam can help identify telangiectasias on the sclera, which are characteristic of ataxia-telangiectasia: [5]

Other Diagnostic Tests In addition to genetic testing and eye movement abnormalities, other diagnostic tests may be used to rule out or confirm a diagnosis of neurodevelopmental disorder with eye movement abnormalities and ataxia. These include:

• Imaging studies: Such as MRI or CT scans, which can help identify structural abnormalities in the brain: [10]
• Blood tests: Which can measure levels of certain biochemicals or enzymes associated with these disorders: [11]

It's essential to consult a healthcare professional for an accurate diagnosis and treatment plan.

Based on the provided context, it appears that there are several potential treatments for a neurodevelopmental disorder characterized by eye movement abnormalities and ataxia.

• Metformin: According to search result [4], metformin is considered a potentially useful treatment for this condition due to its effects on different pathways, including downregulation of the insulin/IGF-1 signaling pathway.
• Acetazolamide: Search results [7] and [9] mention acetazolamide as a treatment option. In one case, it was used off-label to decrease the frequency and intensity of eye movement abnormalities in a patient with this condition ([7]). Another search result highlights its potential use in treating various neurometabolic diseases in children, including those with abnormal eye movements ([9]).
• Dalfampridine: Search result [6] mentions dalfampridine as a new treatment option for another related condition (EA2), but it may also be relevant to this neurodevelopmental disorder.
• Fampridine: Similar to dalfampridine, fampridine is mentioned in search result [6] as a potential treatment for EA2 and might be applicable to this condition.

It's essential to note that these treatments are not necessarily specific to the neurodevelopmental disorder with eye movement abnormalities and ataxia. However, they may still be relevant based on their effects on related conditions.

References: [4], [6], [7], [9]

Based on the provided context, there are several neurodevelopmental disorders that can present with eye movement abnormalities and ataxia. Here are some possible differential diagnoses:

• SCAX1: This is an X-linked recessive neurologic disorder characterized by hypotonia at birth, delayed motor development, gait ataxia, difficulty standing, dysarthria, and eye movement abnormalities [5]. SCAX1 can be considered as a potential differential diagnosis for patients presenting with eye movement abnormalities and ataxia.
• ADNP syndrome: This genetic disorder affects brain development and can lead to a wide range of challenges, including eye movement abnormalities and ataxia [7]. ADNP syndrome should be considered in the differential diagnosis of neurodevelopmental disorders with eye movement abnormalities and ataxia.
• Paroxysmal tonic upgaze (PTU) with ataxia: This is a rare, infantile-onset, typically self-limited, paroxysmal movement disorder that can present with eye movement abnormalities and ataxia [10]. PTU with ataxia should be considered in the differential diagnosis of neurodevelopmental disorders with eye movement abnormalities and ataxia.
• Episodic ataxia: This is a condition characterized by recurrent episodes of ataxia, which can be accompanied by eye movement abnormalities [9]. Episodic ataxia should be considered in the differential diagnosis of neurodevelopmental disorders with eye movement abnormalities and ataxia.

It's worth noting that these conditions may have overlapping symptoms, and a comprehensive diagnostic evaluation is necessary to determine the underlying cause of the patient's presentation. A thorough clinical examination, medical history, and possibly additional diagnostic tests (such as genetic testing) may be required to establish an accurate diagnosis.

References: [5] SCAX1 is an X-linked recessive neurologic disorder characterized by hypotonia at birth, delayed motor development, gait ataxia, difficulty standing, dysarthria, ... [7] ADNP syndrome, also called Helsmoortel-Van Der Aa syndrome, is a genetic disorder that affects brain development and can lead to a wide range of challenges. [9] by A Hassan · 2023 · Cited by 15 — Differential diagnosis for episodic ataxia. Vestibular migraine. Migraine with brainstem aura. Peripheral vestibular disorders (e.g. BPPV, Vestibular neuritis ... [10] by SM Lazar · 2024 — Paroxysmal tonic upgaze (PTU) with ataxia is a rare, infantile-onset, typically self-limited, paroxysmal movement disorder that has been ...