autosomal recessive intellectual developmental disorder 5

Autosomal Recessive Intellectual Developmental Disorder 5 (MRD5) is a condition characterized by below-average intellectual functioning and impairments in adaptive behavior [2]. It is caused by a homozygous mutation in the NSUN2 gene on chromosome 5p15 [9].

The symptoms of MRD5 include delayed psychomotor development, moderate to severe intellectual disability, and seizures [5][6]. Some individuals with this condition may also experience global developmental delay [8].

MRD5 is a rare genetic disorder that affects cognitive and motor skills. It is characterized by significant below-average general intellectual functioning associated with impairments in adaptive behavior [7][4].

The NSUN2 gene plays an important role in the development of MRD5, and mutations in this gene can lead to the condition [9]. Understanding the genetic basis of MRD5 can help in the diagnosis and management of the disorder.

MRD5 is related to other intellectual developmental disorders, including autosomal recessive non-syndromic intellectual disability, which is caused by a mutation in the NSUN2 gene [12].

In summary, MRD5 is a rare genetic disorder characterized by delayed psychomotor development, moderate to severe intellectual disability, and seizures. It is caused by a homozygous mutation in the NSUN2 gene and affects cognitive and motor skills.

References: [1] Not applicable [2] Context 2 [4] Context 7 [5] Context 5 [6] Context 6 [7] Context 7 [8] Context 8 [9] Context 9 [12] Context 12

Autosomal recessive intellectual developmental disorder-5 (MRD5) is a genetic condition characterized by moderately to severely impaired intellectual development with delayed psychomotor development.

Clinical Features:

• Delayed speech and motor skills, such as sitting, standing, and walking [1]
• Poor muscle tone (hypotonia) and delays in the development of motor skills like sitting, standing, and walking [9]
• Speech is also affected [9]

Additional Features:

• Fifth finger clinodactyly (a condition where the little finger is bent towards the ring finger)
• Recurrent pneumonia
• Hepatosplenomegaly (enlargement of the liver and spleen)

It's worth noting that these symptoms can vary in severity and may not be present in all individuals with MRD5. The condition is often diagnosed through genetic testing, which can identify the presence of mutations in the KIAA0556 gene.

References: [1] - OMIM entry for intellectual developmental disorder-5 (MRD5) [9] - Context search result 9

Based on the provided context, it appears that there are several diagnostic tests available for autosomal recessive intellectual developmental disorder 5.

• According to search result [5], diagnostic tests (149) are mentioned as a possible approach for diagnosing this condition.
• Search result [9] mentions G-banded karyotyping as a standard first-tier test for detecting genetic imbalance in patients with GDD/ID, which may be relevant to autosomal recessive intellectual developmental disorder 5.

However, it's essential to note that the context also mentions Quest Diagnostics Incorporated and its affiliated companies (search result [11]), Atrium Health's imaging services (search results [10] and [12]), Novant Health Imaging Museum (search result [13]), and Charlotte Radiology (search results [14] and [15]). These search results are primarily related to medical imaging services, which may not be directly relevant to diagnostic tests for autosomal recessive intellectual developmental disorder 5.

Therefore, the most relevant information available in the context is:

• Diagnostic tests (149) may be available for autosomal recessive intellectual developmental disorder 5.
• G-banded karyotyping has been used as a standard first-tier test for detecting genetic imbalance in patients with GDD/ID.

Please note that this information might not be comprehensive or up-to-date, and it's always best to consult a medical professional for accurate and reliable information.

Based on the available information, it appears that there are limited treatment options for autosomal recessive intellectual developmental disorder type 5 (MRD5). However, some studies suggest that certain medications may be effective in managing symptoms associated with this condition.

• Seizure control: Valproic acid and Clobazam have been reported as a viable combination to control seizures in patients with MRD5 [1][6]. This suggests that these medications may be useful in managing seizure activity, which is a common symptom of this disorder.
• General treatment approach: It's essential to consult with a healthcare professional for medical advice and treatment. They can provide personalized guidance on the best course of action for an individual with MRD5 [2].

It's worth noting that genetic therapies are being explored as potential treatments for various diseases, including those caused by defective or missing genes [9]. However, it's unclear whether these therapies would be effective in treating MRD5.

In summary, while there is limited information available on the treatment of autosomal recessive intellectual developmental disorder type 5 (MRD5), some medications like Valproic acid and Clobazam may be useful in managing symptoms such as seizures. Consultation with a healthcare professional is essential for personalized guidance on treatment.

References: [1] M Hasan, 2022 - In addition, the seizure medication regimen that was utilized by this patient (Valproic acid and Clobazam) presents as a viable combination to control seizures... [6] M Hasan, 2022 - In addition, the seizure medication regimen that was utilized by this patient (Valproic acid and Clobazam) presents as a viable combination to control seizures... [9] K Hou, 2024 - Genetic therapies can treat diseases by using viral vector or nanoparticles for gene delivery to introduce, repair, or replace defective or missing genes...

The differential diagnosis for autosomal recessive intellectual developmental disorder 5 (MRD5) involves a range of conditions that can present with similar symptoms, such as delayed psychomotor development, moderate to severe intellectual disability, and seizures. Some of the key conditions to consider in the differential diagnosis of MRD5 include:

• Cohen syndrome: A rare genetic disorder characterized by multi-systemic involvement, causing developmental delays, intellectual disabilities, microcephaly, and other systemic features [9].
• SLC6A17-related disorders: Homozygous mutations in SLC6A17 have been associated with autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problems [5].
• Other genetic disorders: Various other genetic conditions can present with similar symptoms to MRD5, including intellectual developmental disorders caused by mutations in genes such as CHD5 [1], SLC6A17 [5], and others.
• Metabolic disorders: Metabolic evaluation is an essential part of the diagnostic algorithm for identifying treatable causes of intellectual developmental disorders, including conditions like mitochondrial disorders [7].

It's worth noting that the differential diagnosis for MRD5 can be extensive, and a comprehensive evaluation by a multidisciplinary team of healthcare professionals is necessary to accurately diagnose and manage this condition.

References:

[1] - Context result 1 [5] - Context result 5 [7] - Context result 7 [9] - Context result 9