Stone Man Syndrome: A Rare and Debilitating Genetic Disorder with a Misguided Immune Response Article Swipe
Dipankar Maiti
,
Surya Rao Rao Venkata Mahipathy
·
YOU?
·
· 2023
· Open Access
·
· DOI: https://doi.org/10.37506/ijocm.v11i2.3413
YOU?
·
· 2023
· Open Access
·
· DOI: https://doi.org/10.37506/ijocm.v11i2.3413
Stone Man Syndrome, also known as Fibrodysplasia Ossificans Progressiva(FOP), is a rare genetic disorder characterized by progressive bone formation and connective tissue ossification. The condition affects approximately 1 in 2 million people worldwide and typically becomes apparent during early childhood. Individuals with Stone Man Syndrome experience the formation of extra bone in their muscles, tendons, and ligaments, which eventually leads to joint immobility and skeletal abnormalities. The condition progresses gradually and often leads to the fusion of the spinal column and rib cage, resulting in respiratory problems and limited mobility. FOP is caused by a mutation in the ACVR1 gene, which encodes a protein involved in bone formation and repair. The mutation leads to the activation of a specific signalling pathway, causing the body to produce excess bone tissue in response to injury or trauma. Currently, there is no cure for Stone Man Syndrome, and treatment options are limited. Physicians can only manage the symptoms of the condition and help patients maintain mobility through physical therapy, pain management, and surgery. However, surgery can be risky due to the risk of triggering new bone formation. The diagnosis of Stone Man Syndrome is typically based on clinical evaluation and genetic testing. Early diagnosis is critical to developing effective treatment plans and providing support for patients and their families. In conclusion, Stone Man Syndrome is a rare genetic disorder characterized by the progressive formation of extra bone tissue, leading to joint immobility and skeletal abnormalities. Although there is currently no cure for the condition, early diagnosis and management of symptoms can improve patients’ quality of life.
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- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.37506/ijocm.v11i2.3413
- https://ijop.net/index.php/ijocm/article/download/3413/2876
- OA Status
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- OpenAlex ID
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All OpenAlex metadata
Raw OpenAlex JSON
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https://openalex.org/W4385952668Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.37506/ijocm.v11i2.3413Digital Object Identifier
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Stone Man Syndrome: A Rare and Debilitating Genetic Disorder with a Misguided Immune ResponseWork title
- Type
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articleOpenAlex work type
- Language
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enPrimary language
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2023Year of publication
- Publication date
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2023-07-27Full publication date if available
- Authors
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Dipankar Maiti, Surya Rao Rao Venkata MahipathyList of authors in order
- Landing page
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https://doi.org/10.37506/ijocm.v11i2.3413Publisher landing page
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https://ijop.net/index.php/ijocm/article/download/3413/2876Direct link to full text PDF
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YesWhether a free full text is available
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bronzeOpen access status per OpenAlex
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https://ijop.net/index.php/ijocm/article/download/3413/2876Direct OA link when available
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Fibrodysplasia ossificans progressiva, Medicine, Genetic disorder, Heterotopic ossification, Connective tissue, Ossification, Bioinformatics, Surgery, Pathology, Disease, BiologyTop concepts (fields/topics) attached by OpenAlex
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0Total citation count in OpenAlex
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10Other works algorithmically related by OpenAlex
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| abstract_inverted_index.management | 254 |
| abstract_inverted_index.progresses | 68 |
| abstract_inverted_index.signalling | 119 |
| abstract_inverted_index.triggering | 180 |
| abstract_inverted_index.Individuals | 40 |
| abstract_inverted_index.conclusion, | 217 |
| abstract_inverted_index.management, | 167 |
| abstract_inverted_index.patients’ | 259 |
| abstract_inverted_index.progressive | 16, 229 |
| abstract_inverted_index.respiratory | 85 |
| abstract_inverted_index.approximately | 26 |
| abstract_inverted_index.characterized | 14, 226 |
| abstract_inverted_index.ossification. | 22 |
| abstract_inverted_index.Fibrodysplasia | 6 |
| abstract_inverted_index.abnormalities. | 65, 241 |
| abstract_inverted_index.Progressiva(FOP), | 8 |
| cited_by_percentile_year | |
| corresponding_author_ids | https://openalex.org/A5064454812 |
| countries_distinct_count | 1 |
| institutions_distinct_count | 2 |
| corresponding_institution_ids | https://openalex.org/I286135121 |
| citation_normalized_percentile.value | 0.26169641 |
| citation_normalized_percentile.is_in_top_1_percent | False |
| citation_normalized_percentile.is_in_top_10_percent | False |