autosomal recessive intellectual developmental disorder 58

Autosomal Recessive Intellectual Developmental Disorder 58 (MRT58) is a rare genetic condition characterized by below-average intellectual functioning and impairments in adaptive behavior [4]. It is inherited in an autosomal recessive pattern, meaning that the disease-causing mutation in the ELP2 gene on chromosome 18q12 must be present in both copies of the gene for the individual to express the disorder [3].

Individuals with MRT58 may experience delayed development, intellectual disability, language delay, and speech impairment. Some patients may also have motor delay or incoordination [8]. The condition is non-syndromic, meaning that it does not involve malformations in other organs of the body.

The ELP2 gene plays a crucial role in brain development and function, and mutations in this gene can lead to intellectual disability without any apparent physical abnormalities. MRT58 is caused by homozygous or compound heterozygous mutation in the ELP2 gene [3].

It's worth noting that autosomal recessive intellectual developmental disorder 58 is a very rare genetic condition, and more research is needed to fully understand its characteristics and implications.

References: [3] - The cause of the disease is a mutation in the ELP2 gene. [4] - Intellectual developmental disorder, autosomal recessive 58 is characterized by below-average intellectual functioning and impairments in adaptive behavior. [8] - MRD58 patients show delayed development, intellectual disability, language delay and speech impairment. Some patients have motor delay or incoordination, and ...

Based on the provided context, here are the signs and symptoms of autosomal recessive intellectual developmental disorder 58:

Common Features

• Impaired intellectual development [1]
• Absent or delayed speech [2]
• Poor sleep patterns [2]

Less Common Features

• Fifth finger clinodactyly (a rare physical feature) [1]
• Recurrent pneumonia (repeated lung infections) [1]
• Hepatosplenomegaly (enlargement of the liver and spleen) [1]

Other Possible Symptoms

• Macrocephaly (an abnormally large head size) [3]
• Global developmental delay (delayed development in multiple areas, such as motor skills, language, and cognitive abilities) [3]
• Seizures (rarely associated with this condition) [3]

Please note that these symptoms may vary from person to person, and not everyone with autosomal recessive intellectual developmental disorder 58 will exhibit all of them. If you have any specific questions or concerns about this condition, feel free to ask!

Based on the provided context, here are some diagnostic tests that may be relevant for autosomal recessive intellectual developmental disorder 58:

• Genetic testing: Genetic tests can identify mutations in specific genes associated with autosomal recessive intellectual developmental disorders. For example, testing for mutations in the ST3GAL3 gene (1p34.1) may be recommended [2].
• Chromosomal microarray analysis: This is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies, including intellectual developmental disorders [3].
• Karyotype analysis: G-banded karyotyping has historically been the standard first-tier test for detection of genetic imbalance in patients with GDD/ID, although its use may be declining in favor of chromosomal microarray analysis [7].

It's essential to consult a healthcare professional or a genetic counselor to determine the most appropriate diagnostic tests and to discuss the results.

References:

[2] - Clinical Genetic Test offered by Intergen for conditions (1): Intellectual disability, autosomal recessive 12; Testing genes (1): ST3GAL3 (1p34.1); ... [3] - Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. [7] - Sep 1, 2014 — G-banded karyotyping historically has been the standard first-tier test for detection of genetic imbalance in patients with GDD/ID for more than ...

Based on the provided context, it appears that there are limited resources available for the specific treatment of autosomal recessive intellectual developmental disorder 58 (MRT58). However, I can provide some general information on the treatment options for similar conditions.

• Genetic therapies: Research suggests that genetic therapies, such as gene delivery using viral vectors or nanoparticles, may be a potential treatment option for certain autosomal recessive intellectual developmental disorders [7].
• No specific treatment mentioned: Unfortunately, none of the search results provide specific information on the treatment of MRT58. However, it is essential to consult with a qualified healthcare professional or a genetic counselor for personalized advice and guidance.
• General treatment options: For individuals with intellectual disabilities, including those caused by autosomal recessive mutations, treatment often focuses on managing symptoms, improving quality of life, and providing supportive care [8].
• Medications: In some cases, medications may be prescribed to address specific symptoms or behaviors associated with intellectual disability. However, these decisions should be made in consultation with a healthcare professional [14].

It is essential to note that the treatment options for MRT58 are not well-documented, and more research is needed to understand the most effective approaches.

References:

[7] Hou K (2024) Genetic therapies for autosomal recessive intellectual developmental disorders. [Context result 7]

[8] A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested ... [Context result 6]

[14] Cerner Multum Consumer Drug Information. Multum leaflets provide basic consumer drug information, such as drug descriptions and interactions... [Context result 14]

The differential diagnosis for autosomal recessive intellectual developmental disorder (ARIDD) 58 involves considering various conditions that may present with similar symptoms.

• Angelman syndrome: This is a neurogenetic disorder characterized by severe intellectual and developmental disabilities, often accompanied by speech difficulties and epilepsy [6].
• Coffin-Siris syndrome: A rare genetic disorder that affects physical and intellectual development, characterized by distinctive facial features and hair abnormalities [7].
• Autosomal dominant intellectual developmental disorders: These conditions can present with similar symptoms to ARIDD 58, but are inherited in an autosomal dominant pattern, meaning a single copy of the mutated gene is sufficient for expression [5].

It's essential to note that a comprehensive differential diagnosis for ARIDD 58 requires considering various genetic and environmental factors. A detailed evaluation by a qualified healthcare professional or genetic counselor can help determine the underlying cause of intellectual developmental disorder.

References: [6] - The differential diagnosis includes Angelman syndrome, which is characterized by severe intellectual and developmental disabilities. [7] - Differential diagnoses include Coffin-Siris syndrome, intellectual disability, and other rare genetic disorders.