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GlossaryHypermobility Spectrum Disorder

group of conditions with overly flexible joints causing pain and instability

Hypermobility Spectrum Disorder (HSD) is a group of conditions characterized by joints that move beyond the normal range of motion, often leading to pain, instability, and an increased risk of injury. It encompasses a range of symptoms from benign joint hypermobility to more severe forms that can affect daily functioning and quality of life. HSD is distinct from other connective tissue disorders like Ehlers-Danlos Syndrome, although they can share similar features.

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Comprehensive Program Planning for the Integration of 21st Century Learning Center After-School Programs with Regular Day Programs and Community Partners

research Comprehensive Program Planning for the Integration of 21st Century Learning Center After-School Programs with Regular Day Programs and Community Partners.

January 1999 in “American Journal of Medical Genetics Part A”

The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.

research Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome

20 citations , February 2019 in “Genes”

The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.

research Diagnosis and management of vascular Ehlers-Danlos syndrome: Experience of the UK national diagnostic service, Sheffield

1 citations , March 2023 in “European Journal of Human Genetics”

The UK's EDS National Diagnostic Service found that early diagnosis, lifestyle advice, and regular check-ups are crucial for managing vascular Ehlers-Danlos syndrome. A combination of losartan and bisoprolol can reduce vascular events, improving survival and quality of life.

Case Report: Two Individuals With AEBP1-Related Classical-Like EDS - Further Clinical Characterisation and Description of Novel AEBP1 Variants

research Case report: Two individuals with AEBP1-related classical-like EDS: Further clinical characterisation and description of novel AEBP1 variants

1 citations , April 2023 in “Frontiers in Genetics”

The document concludes that individuals with a rare genetic disorder linked to the AEBP1 gene may experience a unique type of hair loss and should be monitored for heart issues.

A Case of MBTPS1-Related Disorder Due to Compound Heterozygous Variants in MBTPS1 Gene: Genotype-Phenotype Expansion and the Emergence of a Novel Syndrome

research A case of MBTPS1‐related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype–phenotype expansion and the emergence of a novel syndrome

December 2023 in “American journal of medical genetics. Part A”

A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.

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