autosomal recessive intellectual developmental disorder 52

Intellectual Developmental Disorder, Autosomal Recessive 52 (LMAN2L Gene Mutation)

Autosomal recessive intellectual developmental disorder 52 is a rare genetic condition characterized by below-average intellectual functioning and impairments in adaptive behavior. This disorder is caused by a mutation in the LMAN2L gene on chromosome 2q11.

Key Features:

• Below-average intellectual functioning [1]
• Impairments in adaptive behavior, such as difficulty with daily living skills and social interactions [2]
• Autosomal recessive inheritance pattern, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to express the condition [3]

Clinical Presentation:

Individuals with autosomal recessive intellectual developmental disorder 52 may exhibit a range of cognitive and behavioral difficulties, including:

• Delayed or absent speech development
• Difficulty with problem-solving and learning new skills
• Impaired social interactions and relationships
• Adaptive behavior deficits, such as difficulty with daily living tasks and self-care [4]

References:

[1] Context 1: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the LMAN2L gene."

[2] Context 2: "A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested..."

[3] Context 3: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the LMAN2L gene. Synonyms. LMAN2L autosomal..."

[4] Context 5: "MENTAL RETARDATION, AUTOSOMAL RECESSIVE 52 · Phenotype-Gene Relationships · ▽ TEXT · ▻ Clinical Features · ▻ Inheritance · ▻ Molecular Genetics · ▻ REFERENCES."

Based on the provided context, here are the signs and symptoms of autosomal recessive intellectual developmental disorder 52 (MRT52):

• Mental retardation, mild (IQ range from 50 to 70) [5]
• Mildly delayed developmental milestones [5]

Please note that these symptoms may vary in severity and presentation among individuals with MRT52. It's also worth mentioning that the context does not provide a comprehensive list of signs and symptoms, but rather highlights some specific features associated with this condition.

References: [5] - Symptoms · mental retardation, mild (iq range from 50 to 70, family a) · mildly delayed developmental milestones (family a) · no autistic features (family a) ...

Based on the provided context, here are some diagnostic tests that may be relevant for autosomal recessive intellectual developmental disorder 74 (also known as autosomal recessive non-syndromic intellectual disability):

• Chromosomal microarray analysis: This is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies [3].
• Genetic testing: Genetic tests can be ordered individually, and any gene in the Autosomal Recessive Non-Specific Intellectual Disability Panel can also be ordered individually. Please contact us directly for cost and CPT [5].
• Karyotype analysis: G-banded karyotyping historically has been the standard first-tier test for detection of genetic imbalance in patients with GDD/ID, but chromosomal microarray analysis is now recommended as a first-tier test [7].
• Metabolic testing: Metabolic testing may be considered to rule out other conditions that can cause intellectual disability.
• Testing for fragile X syndrome: Fragile X syndrome is a genetic condition that can cause intellectual disability and developmental delays. Testing for this condition may be considered if there are specific clinical features or family history suggestive of fragile X syndrome [8].

It's worth noting that the diagnostic approach may vary depending on individual circumstances, and a comprehensive evaluation by a qualified healthcare professional is necessary to determine the most appropriate diagnostic tests.

References: [3] Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. [5] Any gene in the Autosomal Recessive Non-Specific Intellectual Disability Panel can also be ordered individually. Please contact us directly for cost and CPT. [7] G-banded karyotyping historically has been the standard first-tier test for detection of genetic imbalance in patients with GDD/ID, but chromosomal microarray analysis is now recommended as a first-tier test. [8] by P Pivalizza · Cited by 16 — - Rationale for genetic testing · - Chromosomal microarray analysis · - Testing for fragile X syndrome · - Karyotype analysis · - Metabolic testing ...

Based on the provided context, it appears that there are limited resources available for the treatment of autosomal recessive intellectual developmental disorder 52 (MRT52). However, I can provide some general information on the topic.

Current Understanding

Autosomal recessive intellectual developmental disorders are a group of rare genetic conditions characterized by significant below-average general intellectual functioning associated with impairments in adaptive behavior. MRT52 is one such condition, but there is limited information available on its specific treatment options.

General Treatment Approaches

While there may not be specific treatments for MRT52, the following general approaches are often considered for individuals with autosomal recessive intellectual developmental disorders:

• Early Intervention: Early identification and intervention can help mitigate some of the effects of the condition. This may include speech, occupational, and physical therapy to address developmental delays.
• Genetic Counseling: Genetic counseling can provide families with information on the inheritance pattern of the condition, recurrence risks, and options for prenatal testing.
• Supportive Care: Supportive care, such as behavioral therapies and adaptive equipment, can help individuals with MRT52 manage their symptoms and improve quality of life.

Research and Future Directions

While there is limited information available on the treatment of MRT52 specifically, research in the field of genetic medicine continues to advance. New treatments and therapies are being developed to address various aspects of intellectual developmental disorders.

• Gene Therapy: Gene therapy holds promise for treating genetic conditions by introducing healthy copies of a gene into cells.
• Stem Cell Therapies: Stem cell therapies may also be explored as potential treatment options for MRT52.

Conclusion

In conclusion, while there is limited information available on the specific treatment of autosomal recessive intellectual developmental disorder 52 (MRT52), general approaches such as early intervention, genetic counseling, and supportive care can provide some benefits. Research in the field continues to advance, with potential new treatments and therapies being developed.

References:

• [6] A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested ...
• [8] A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested ...
• [7] by 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 (ARIDD) involves a comprehensive evaluation to rule out other conditions that may present with similar symptoms.

According to the provided context, some ARIDs are classified under well-described syndromes such as ciliopathies (Joubert syndrome, Bardet–Biedl syndrome, and others), metabolic disorders, and others [8]. Additionally, when patients fulfill certain criteria, a clinical diagnosis is accomplished through differential diagnosis [11].

In the case of KCNQ2-related isolated ID, all genetic disorders with ID without other distinctive findings should be considered in the differential diagnosis [10]. Similarly, for TRIO-NDD, because these features are not sufficient to diagnose TRIO-NDD, all intellectual developmental disorders without other distinctive findings should be considered in the differential diagnosis [15].

The clinical work-up is followed by making a differential diagnosis. Family history has been helpful in the gene discovery of X-linked and autosomal recessive disorders, but its absence does not rule out ARIDD [11]. A specific genetic diagnosis can now be identified in a substantial portion of affected individuals due to technological advances, which has important ramifications for treatment, prognosis, and recurrence risk [14].

The phenotypic spectrum of ACTL6B-related disorders includes both autosomal recessive and autosomal dominant neurodevelopmental disorders. This information is crucial for differential diagnosis, as it helps identify the underlying cause of intellectual disability.

In summary, the differential diagnosis for ARIDD involves a comprehensive evaluation to rule out other conditions that may present with similar symptoms, including ciliopathies, metabolic disorders, KCNQ2-related isolated ID, TRIO-NDD, and ACTL6B-related disorders. Family history and technological advances also play a crucial role in making an accurate differential diagnosis.

References: [8] Some ARIDs are classified to well-described syndromes such as ciliopathies (Joubert syndrome, Bardet–Biedl syndrome, and others), metabolic disorders, ... [10] All genetic disorders with ID without other distinctive findings should be considered in the differential diagnosis of KCNQ2-related isolated ID. [11] The clinical work-up is followed by making a differential diagnosis: when patients fulfill certain criteria, a clinical diagnosis is accomplished. ... Family history has not only been helpful in the gene discovery of X-linked and autosomal recessive disorders. [14] Technological advances now allow for a specific genetic diagnosis to be identified in a substantial portion of affected individuals. [15] Because these features are not sufficient to diagnose TRIO-NDD, all intellectual developmental disorders without other distinctive findings should be considered in the differential diagnosis.