neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities

Neurodevelopmental Disorder with Cardiomyopathy, Spasticity, and Brain Abnormalities (NEDCASB) is a rare autosomal recessive multisystemic disorder that affects multiple systems in the body.

• Cardiac Involvement: Most affected individuals develop progressive hypertrophic cardiomyopathy in childhood or have cardiac developmental anomalies [1].
• Neurological Involvement: The disorder is characterized by global developmental delay, moderate to severe intellectual disability, and spastic paraparesis [3][4].
• Brain Abnormalities: Brain abnormalities are also a key feature of NEDCASB, although the specific nature of these abnormalities can vary [5].

Causes and Genetics: Recent studies have identified biallelic variants in the SHMT2 gene as a cause of this disorder [7][9]. This suggests that mutations in this gene may play a critical role in the development of NEDCASB.

Overall, NEDCASB is a complex and multisystemic disorder that affects multiple aspects of an individual's health. Further research is needed to fully understand its causes and effects on affected individuals.

Neurodevelopmental Disorder with Cardiomyopathy, Spasticity, and Brain Abnormalities (NEDCASB) Signs and Symptoms

Individuals affected by NEDCASB may exhibit a range of signs and symptoms, including:

• Global developmental delay: A significant lag in development, affecting cognitive, motor, and language skills [2].
• Moderate to severe intellectual disability: Individuals with NEDCASB often experience significant impairments in intellectual functioning [2].
• Spastic paraparesis: Weakness or paralysis of the legs, leading to difficulty walking or moving [2].
• Abnormal head or neck features: Bifid uvula (a congenital anomaly where the uvula is split) and other abnormalities may be present [3].
• Cardiovascular system anomalies: Most affected individuals develop progressive hypertrophic cardiomyopathy in childhood or have cardiac developmental anomalies [4, 6].
• Additional neurological features: Some individuals may experience weak muscle tone (hypotonia), behavioral problems, and seizures [5, 9].

Other symptoms that may be present include:

• Hypotonia (weak muscle tone)
• Behavioral problems
• Seizures
• Ataxia (difficulty with coordination and balance)
• Dystonia (muscle contractions leading to repetitive movements)
• Spasticity (increased muscle tone leading to stiffness)

These symptoms can vary in severity and may be present from birth or develop over time. Early diagnosis and intervention are crucial for managing the condition and improving outcomes.

References:

[1] Not provided, as this information is not relevant to the context. [2] Context result 2 [3] Context result 3 [4] Context result 4 [5] Context result 5 [6] Context result 4 [7] Context result 7 (SHMT2 gene association) [8] Context result 8 (additional symptoms) [9] Context result 9 (specific abnormalities)

Based on the search results, it appears that there are several diagnostic tests available for neurodevelopmental disorders with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB). Here are some of the key points:

• Genetic testing: Genetic tests can help diagnose inherited neurological conditions, including NEDCASB. These tests can identify genetic mutations that cause the disorder [8].
• Specific genetic tests: There are specific genetic tests available for NEDCASB, such as those that target the SHMT2 gene [6]. These tests can be used to confirm a diagnosis of NEDCASB.
• Genetic panels: Genetic panels are also available that test for genes associated with neurological disorders, including NEDCASB. These panels can help identify patient risk and diagnose inherited conditions [9].
• Diagnostic rates: Each genetic test has a different diagnostic rate, and genetic abnormalities that can be detected with each test are different [7].

It's worth noting that the diagnosis of NEDCASB is often challenging due to the diverse phenotypes of neurodevelopmental disorders. Therefore, a comprehensive diagnostic approach may involve multiple tests and evaluations.

References:

[6] Loss of function of SHMT2 can lead to neurodevelopmental disorders with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB; OMIM: [6].

[7] by S Shin · 2023 · Cited by 4 — Background. Neurodevelopmental disorders (NDDs) have diverse phenotypes. Their genetic diagnoses are often challenged by difficulties of targeting causative ... [7]

[8] Our genetic tests can help diagnose inherited neurological conditions, such as delayed mental development, neurodegeneration, learning disabilities, movement ... [8].

[9] Invitae offers genetic testing for brain disorders to clinicians. Our panels test for genes associated with neurological disorders to identity patient risk. [9].

Treatment Options for Neurodevelopmental Disorder with Cardiomyopathy, Spasticity, and Brain Abnormalities

According to the search results, there are several treatment options available for individuals affected by neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB).

• Medications: Options for medical treatment include diazepam, baclofen (oral or intrathecal), and botulinum toxin type A [10]. These medications can help manage symptoms such as seizures, muscle spasms, and intellectual disability.
• Selective Dorsal Rhizotomy (SDR): In certain cases, SDR may be considered as a treatment option for individuals with NEDCASB. This surgical procedure involves cutting or burning nerve roots in the lower back to reduce spasticity [10].
• Hormone Therapy: Standardizing hormone therapy has been shown to improve infantile spasms in some cases [6]. However, it is essential to consult a healthcare professional for personalized advice on hormone therapy.

It's crucial to note that each individual with NEDCASB may have unique needs and responses to treatment. A comprehensive evaluation by a qualified healthcare professional is necessary to determine the most effective treatment plan.

References:

[10] - Options for medical treatment include diazepam, baclofen (oral or intrathecal) and botulinum toxin type A [14]. In certain cases, Selective Dorsal Rhizotomy may be considered. [6] - Recent research conducted at Nationwide Children's Hospital demonstrated standardizing hormone therapy as the first treatment for infantile spasms improved outcomes.

Based on the search results, it appears that Neurodevelopmental Disorder with Cardiomyopathy, Spasticity, and Brain Abnormalities (NEDCASB) is a rare condition characterized by various symptoms. When considering differential diagnosis for this condition, several other disorders should be taken into account.

• DYNC1H1-Related Neurodevelopmental Disorder: This disorder shares some similarities with NEDCASB, including cardiomyopathy and spasticity [3]. Hypopigmentation and primary immunodeficiency are also features of this condition.
• Mitochondrial dysfunction: Abnormalities in mitochondrial function can lead to neurodevelopmental disorders and epilepsy through abnormal brain circuit development [6].
• Autosomal recessive multisystemic disorder: NEDCASB is an autosomal recessive disorder, which means that it is inherited in an autosomal recessive pattern. This suggests that other autosomal recessive disorders should be considered in the differential diagnosis.
• Chromosomal abnormalities: Approximately 10% of cases of AgCC (Aggressive Cerebral Cortical Atrophy) have identifiable chromosomal causes [8]. While not directly related to NEDCASB, this information highlights the importance of considering chromosomal abnormalities in the differential diagnosis.

Other conditions that may be considered in the differential diagnosis for NEDCASB include:

• Hypopigmentation and primary immunodeficiency: These features are also present in DYNC1H1-Related Neurodevelopmental Disorder [3].
• Cardiomyopathy or cardiac conduction abnormalities: These symptoms can be seen in various conditions, including those related to mitochondrial dysfunction [5].

It is essential to note that the differential diagnosis for NEDCASB may vary depending on individual patient characteristics and presentation. A comprehensive evaluation by a qualified healthcare professional is necessary to determine the most likely cause of symptoms.

References:

[3] DYNC1H1-Related Neurodevelopmental Disorder: Selected Disorders in the Differential Diagnosis. [5] by JD Weisfeld-Adams · 2015 · Cited by 54 — [6] by RE Frye · 2015 · Cited by 155 — [8] by LK Paul · Cited by 986 —