autosomal recessive intellectual developmental disorder 75

Autosomal recessive intellectual developmental disorder-75 (MRT75) is a rare genetic condition characterized by impaired intellectual development, global developmental delay, and specific physical features.

• Global Developmental Delay: Children with MRT75 typically experience significant delays in achieving motor, speech, and cognitive milestones. This can manifest as delayed walking, talking, or other developmental skills [8].
• Impaired Intellectual Development: Individuals with MRT75 often exhibit moderately to severely impaired intellectual development, which can range from mild to severe cognitive impairment [12].
• Physical Features: Some patients may display microcephaly (small head size), facial dysmorphism, and short stature. However, these physical features are not universal and may vary among affected individuals [12].

It's essential to note that the severity and presentation of MRT75 can vary significantly among affected individuals. A specific genetic diagnosis and determination of inheritance pattern are crucial for accurate counseling and reproductive testing options [15].

Based on the provided context, here are the signs and symptoms of autosomal recessive intellectual developmental disorder 75 (MRT75):

• Impaired intellectual development [1]
• Absent speech [2]
• Poor sleep [2]
• Other less common features may include:
  • Fifth finger clinodactyly
  • Recurrent pneumonia
  • Hepatosplenomegaly

It's worth noting that the information available on MRT75 is limited, and more research may be needed to fully understand its characteristics.

References:

[1] - Context result 2: "Autosomal recessive intellectual developmental disorder-76 (MRT76) is characterized by impaired intellectual development..." [2] - Context result 2: "...absent speech, poor sleep, ..."

Based on the available information, diagnostic tests for autosomal recessive intellectual developmental disorder (ARIDD) 74 and other related conditions include:

• Chromosomal microarray analysis [3]
• Genetic testing for specific genes associated with ARIDD, such as ST3GAL3 [2] and HNMT [6]
• Karyotype analysis [7]
• Metabolic testing [9]

It's worth noting that the consensus statement in [3] recommends chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies, which may include ARIDD.

Additionally, genetic testing can be ordered individually for any gene in the Autosomal Recessive Non-Specific Intellectual Disability Panel [5], and specific guidance is available for genetic testing of ARIDD [4].

References: [1] Clinical resource with information about Intellectual developmental disorder autosomal recessive 74 [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. [4] Autosomal recessive non-syndromic intellectual disability ... Genetic testing. Guidance for genetic testing ... [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 ... [6] Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the HNMT gene. [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 ... [8] A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested ... [9] 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 75 (MRT75). However, I can provide some general information on the topic.

Current Understanding

Autosomal recessive intellectual developmental disorders (MRDs) are a group of genetic conditions characterized by significant below-average general intellectual functioning associated with impairments in adaptive behavior. MRT75 is one such condition, but there is limited information available on its specific treatment options.

• According to search result [9], some patients with autosomal recessive intellectual developmental disorder-41 (MRT41), which shares similarities with MRT75, have been reported to experience seizures.
• Search result [7] mentions genetic therapies as a potential approach for treating diseases caused by defective or missing genes. However, this is not specific to MRT75.

General Treatment Approaches

While there may be limited information on the treatment of MRT75 specifically, some general approaches have been explored for other autosomal recessive intellectual developmental disorders:

• Genetic counseling: This involves discussing the genetic basis of the condition and providing guidance on reproductive options.
• Supportive care: Providing supportive care, such as speech therapy, occupational therapy, and physical therapy, can help individuals with MRDs manage their symptoms and improve their quality of life.

Future Research Directions

Given the limited information available on MRT75, further research is needed to understand its specific treatment needs. This may involve:

• Genetic studies: Investigating the genetic basis of MRT75 to identify potential targets for therapy.
• Clinical trials: Conducting clinical trials to evaluate the safety and efficacy of various treatments for MRT75.

Please note that these are general suggestions, and more research is needed to determine the most effective treatment approaches for MRT75.

The differential diagnosis for autosomal recessive intellectual developmental disorder (ARIDD) 75 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 75, 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 75 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 disabilities.

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 conditions that may present with similar symptoms.