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Musculoskeletal Diseases :

Explore Genetic Insights

Summary

Diseases Found 46
High Risk 1
Medium Risk 43
Low Risk 2
Mutated Genes Found 21

Contents

Musculoskeletal Diseases :

The following diseases are associated with Musculoskeletal Diseases ::

Disease Predisposition
Musculoskeletal Diseases Medium
Muscular Diseases Medium

Musculoskeletal Diseases

Musculoskeletal disorders are primarily non-genetic in nature, as they often result from lifestyle factors, repetitive motion, injuries, or age-related wear and tear. However, some musculoskeletal disorders have a genetic component. In cases where a genetic transmission is involved, these conditions can follow various patterns, including: 1. **Autosomal Dominant:** Conditions such as certain types of osteoarthritis and Ehlers-Danlos syndrome can be transmitted this way, where only one copy of the altered gene is necessary to cause the disorder. 2. **Autosomal Recessive:** Some rare forms of musculoskeletal disorders, like certain types of muscular dystrophy, require two copies of the altered gene for the condition to manifest. 3. **X-Linked:** Disorders such as Duchenne Muscular Dystrophy are passed down through the X chromosome, predominantly affecting males. It's essential to consider that the majority of common musculoskeletal disorders, such as general arthritis, tendinitis, and back pain, are influenced more by environmental factors and do not have a straightforward genetic transmission pattern.

Predisposition: Medium
Explanation of predisposition: We predict genetic risk by analyzing specific genetic variants within key genes associated with a condition. For each variant, we assess its impact on biological pathways that are known to influence the disease. The prediction takes into account both the clinical significance of each variant and the confidence in the prediction, which is determined by the quality and strength of the supporting scientific data and research.
Associated Genes
Gene Mutation Type Allele Confidence
MRPL36 Frameshift G/T High
ANK2 Deletion C/T Medium
ACTN2 Duplication T/G High
SDHA Deletion C/C High
GTPBP8 Substitution A/G High
Population Frequency By Gene

Population frequency indicates how common a specific genetic variant is within a group of people, expressed as a percentage. For example, if a gene variant has a frequency of 20%, it means about 20 out of 100 individuals carry that variant. This information helps researchers understand the potential impact of genetic variants on health and traits within different populations.

Gene Frequency
MRPL36 2%
ANK2 21%
ACTN2 22%
SDHA 7%
GTPBP8 16%
Associated Pathways

A pathway refers to a series of biochemical reactions and interactions that occur within cells, allowing for communication between genes, proteins, and metabolites. These pathways are crucial for various physiological functions, including neurotransmission, hormone signaling, and metabolic processes, and can influence behaviors and health outcomes when disrupted by genetic mutations.

Pathway Type Effects
REACT:R-HSA-74160 mTOR Signaling Pathway Plays a role in synaptic plasticity
REACT:R-HSA-1430728 Wnt Signaling Pathway Plays a role in synaptic plasticity
REACT:R-HSA-76002 Hedgehog Signaling Pathway Regulates apoptosis and cell death
REACT:R-HSA-611105 Glutamatergic Transmission Plays a role in synaptic plasticity
Possible Comobordities

Comorbidities are additional health conditions that often occur alongside a primary condition. For example, someone with ADHD may also have other related issues, such as anxiety or learning difficulties. These conditions are linked because they may share similar causes, such as genetics or brain chemistry, making it more likely for a person to experience both at the same time.

Gene Comorbidities Associated Mechanism
MRPL36 Cancer Genetic predisposition
ANK2 Hypertension Cellular apoptosis
ACTN2 Coronary Artery Disease Oxidative stress
SDHA Asthma Inflammation
GTPBP8 Coronary Artery Disease Metabolic dysregulation

Recommendations for Medium Risk for Musculoskeletal Disorder

  • Consultation: Schedule a follow-up consultation with a primary care provider or genetic counselor.
  • Monitoring: Regularly monitor your health for early signs of the condition associated with your predisposition.
  • Lifestyle Adjustments: Implement moderate lifestyle changes to mitigate risk.
  • Personalized Lifestyle Plan:
    • Maintain a balanced diet rich in whole foods, lean protein, and healthy fats.
    • Engage in regular physical activity, such as walking, swimming, or light strength training.
    • Incorporate stress management techniques like deep breathing exercises or light yoga.
    • Limit alcohol consumption and reduce exposure to pollutants.

    For additional guidance on managing your predisposition: See treatment options for musculoskeletal diseases.

Next Steps

Learn more about Musculoskeletal Disorder.

See predicted treatments for musculoskeletal diseases.

Schedule a consultation with a GeneHealth representative to discuss results.

Muscular Diseases

The type of genetic transmission for neuromuscular diseases can vary significantly depending on the specific disease in question. Generally, they can be inherited through different patterns including: 1. **Autosomal Dominant**: Only one copy of the mutated gene is needed to cause the disease. Examples include Myotonic Dystrophy. 2. **Autosomal Recessive**: Two copies of the mutated gene (one from each parent) are required to cause the disease. Examples include Spinal Muscular Atrophy. 3. **X-linked Recessive**: The mutated gene is located on the X chromosome. Since males have one X and one Y chromosome, they are more often affected. Examples include Duchenne Muscular Dystrophy. 4. **Mitochondrial Inheritance**: The mutated genes are located in the mitochondrial DNA, which is inherited from the mother. An example is Mitochondrial Myopathy. The specific type of genetic transmission depends on the particular neuromuscular disease in question.

Predisposition: Medium
Explanation of predisposition: We predict genetic risk by analyzing specific genetic variants within key genes associated with a condition. For each variant, we assess its impact on biological pathways that are known to influence the disease. The prediction takes into account both the clinical significance of each variant and the confidence in the prediction, which is determined by the quality and strength of the supporting scientific data and research.
Associated Genes
Gene Mutation Type Allele Confidence
SDHA Inversion G/C Medium
ZFYVE9 Frameshift A/A Medium
SLC12A7 Duplication G/A High
PHACTR2 Substitution C/C Medium
TMEM45A Substitution A/A High
Population Frequency By Gene

Population frequency indicates how common a specific genetic variant is within a group of people, expressed as a percentage. For example, if a gene variant has a frequency of 20%, it means about 20 out of 100 individuals carry that variant. This information helps researchers understand the potential impact of genetic variants on health and traits within different populations.

Gene Frequency
SDHA 13%
ZFYVE9 8%
SLC12A7 16%
PHACTR2 8%
TMEM45A 22%
Associated Pathways

A pathway refers to a series of biochemical reactions and interactions that occur within cells, allowing for communication between genes, proteins, and metabolites. These pathways are crucial for various physiological functions, including neurotransmission, hormone signaling, and metabolic processes, and can influence behaviors and health outcomes when disrupted by genetic mutations.

Pathway Type Effects
REACT:R-HSA-611105 mTOR Signaling Pathway Impacts cellular stress response
Possible Comobordities

Comorbidities are additional health conditions that often occur alongside a primary condition. For example, someone with ADHD may also have other related issues, such as anxiety or learning difficulties. These conditions are linked because they may share similar causes, such as genetics or brain chemistry, making it more likely for a person to experience both at the same time.

Gene Comorbidities Associated Mechanism
SDHA Stroke Cellular apoptosis
ZFYVE9 Depression Inflammation
SLC12A7 Osteoporosis Genetic predisposition
PHACTR2 Asthma Neurodegeneration
TMEM45A Depression Hormonal imbalance

Recommendations for Medium Risk for Neuromuscular Disease

  • Consultation: Schedule a follow-up consultation with a primary care provider or genetic counselor.
  • Monitoring: Regularly monitor your health for early signs of the condition associated with your predisposition.
  • Lifestyle Adjustments: Implement moderate lifestyle changes to mitigate risk.
  • Personalized Lifestyle Plan:
    • Maintain a balanced diet rich in whole foods, lean protein, and healthy fats.
    • Engage in regular physical activity, such as walking, swimming, or light strength training.
    • Incorporate stress management techniques like deep breathing exercises or light yoga.
    • Limit alcohol consumption and reduce exposure to pollutants.

    For additional guidance on managing your predisposition: See treatment options for Muscular Diseases.

Next Steps

Learn more about Neuromuscular Disease.

See predicted treatments for Muscular Diseases.

Schedule a consultation with a GeneHealth representative to discuss results.

Appendix

Mutated Genes Found

Diseases Found

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