autosomal recessive intellectual developmental disorder 73

Characteristics of Autosomal Recessive Intellectual Developmental Disorder 73 (MRT73)

Autosomal recessive intellectual developmental disorder 73 (MRT73) is a rare genetic condition characterized by global developmental delay with hypotonia and mildly delayed walking [1]. Individuals with MRT73 may experience impaired cognitive development, which can range from mild to severe intellectual disability [3].

Key Features:

• Global developmental delay
• Hypotonia (low muscle tone)
• Mildly delayed walking
• Impaired intellectual development, ranging from mild to severe intellectual disability

References:

[1] - Characterized by global developmental delay with hypotonia and mildly delayed walking, [3] - Impaired intellectual development, ranging from mild to severe intellectual disability.

Note: The information provided is based on the search results and may not be an exhaustive list of all possible characteristics or features of MRT73.

Based on the search results, here are the signs and symptoms of Autosomal Recessive Intellectual Developmental Disorder-73 (MRT73):

• Global developmental delay [1,2,3]
• Hypotonia (low muscle tone) [1,2,3]
• Mildly delayed walking [1,2,3]

Additionally, some less common features may include:

• Fifth finger clinodactyly (a curvature of the little finger) [5]
• Recurrent pneumonia [5]
• Hepatosplenomegaly (enlargement of the liver and spleen) [5]

Other symptoms that have been reported in individuals with MRT73 include:

• Ataxia (difficulty with coordination and balance) [6]
• Febrile seizures (seizures triggered by a fever) [6]
• Severe developmental delay [6]
• Severe mental retardation [6]
• Abnormal gait [6]
• Delayed language development [6]

It's worth noting that the severity of these symptoms can vary from person to person, and not everyone with MRT73 will exhibit all of these signs and symptoms.

Autosomal Recessive Intellectual Developmental Disorder (ARIDD) 73, also known as Intellectual Disability Autosomal Recessive 74, is a rare genetic condition that affects cognitive and adaptive functioning. Diagnostic tests for ARIDD 73 are crucial in identifying the underlying cause of the disorder.

Available Genetic Tests

According to search results [1], clinical genetic testing offered by Intergen includes conditions such as Intellectual disability, autosomal recessive 12, which may be related to ARIDD 73. Additionally, genes like ST3GAL3 (1p34.1) are tested for in individuals with similar conditions.

Chromosomal Microarray Analysis

A consensus statement [3] suggests that chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies, which may include ARIDD 73. This test can help identify genetic imbalances associated with the disorder.

Other Diagnostic Tests

While specific diagnostic tests for ARIDD 73 are not mentioned in the search results, other tests like karyotype analysis [7] and metabolic testing [9] may be considered in the diagnostic workup of individuals suspected to have this condition. Additionally, fragile X syndrome testing [9] may also be relevant.

Genetic Panel Testing

Any gene in the Autosomal Recessive Non-Specific Intellectual Disability Panel can be ordered individually for genetic testing [5]. This includes genes like HNMT and LINS1, which are associated with autosomal recessive non-syndromic intellectual disability [6] and [10].

In conclusion, diagnostic tests for ARIDD 73 may include chromosomal microarray analysis, karyotype analysis, metabolic testing, fragile X syndrome testing, and genetic panel testing. However, specific tests may vary depending on individual circumstances.

References: [1] - Clinical Genetic Test offered by Intergen [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 be ordered individually. [6] - Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the HNMT gene. [7] - G-banded karyotyping historically has been the standard first-tier test for detection of genetic imbalance in patients with GDD/ID [9] - Rationale for genetic testing · - Chromosomal microarray analysis · - Testing for fragile X syndrome · - Karyotype analysis · - Metabolic testing [10] - Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the LINS1 gene.

Autosomal Recessive Intellectual Developmental Disorder (ARIDD) 73, also known as Mental Retardation, Autosomal Recessive 73 (MRT73), is a rare genetic disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior.

Current Treatment Options:

Unfortunately, there are no specific treatments or medications available to cure ARIDD 73. However, various therapeutic approaches can help manage the symptoms and improve the quality of life for individuals affected by this condition.

• Early Intervention: Early intervention programs that focus on developmental delays and intellectual disabilities can be beneficial in improving cognitive and adaptive skills.
• Speech and Language Therapy: Speech and language therapy can help individuals with ARIDD 73 develop communication skills, which is essential for social interaction and daily life.
• Occupational Therapy: Occupational therapy can assist individuals with ARIDD 73 to develop daily living skills, such as dressing, grooming, and feeding themselves.
• Physical Therapy: Physical therapy can help improve motor skills, balance, and coordination in individuals with ARIDD 73.

Emerging Therapies:

Researchers are exploring various emerging therapies that may potentially benefit individuals with ARIDD 73. These include:

• Gene Therapy: Gene therapy involves introducing a healthy copy of the gene to replace the faulty one. This approach is still in its infancy and requires further research.
• Stem Cell Therapy: Stem cell therapy aims to repair or replace damaged cells in the brain, which may help improve cognitive function.

Current Research:

Studies are ongoing to better understand the genetic basis of ARIDD 73 and to develop effective treatments. Researchers are also exploring the potential benefits of various therapeutic approaches, including gene therapy and stem cell therapy.

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] 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) 73 involves considering various conditions that can present with similar symptoms.

• Angelman syndrome: This neurogenetic disorder is characterized by severe intellectual and developmental disabilities, often accompanied by speech difficulties, seizures, and a distinctive facial appearance [6].
• Coffin-Siris syndrome: A rare genetic disorder marked by intellectual disability, delayed development, and characteristic physical features such as sparse hair on the scalp and absent or rudimentary nails [8].
• Other conditions: The differential diagnosis for ARIDD 73 also includes other rare genetic disorders that can present with similar symptoms, such as autosomal recessive deafness-onychodystrophy syndrome.

It's worth noting that a comprehensive diagnostic evaluation is necessary to accurately diagnose and differentiate between these conditions. This may involve genetic testing, physical examination, and a thorough medical history [9].

The differential diagnosis for ARIDD 73 is complex and requires careful consideration of various factors. A detailed understanding of the underlying genetics and clinical presentation is essential for accurate diagnosis and management.

References:

• [6]
• [8]
• [9]