Ehlers-Danlos syndrome musculocontractural type 2

Ehlers-Danlos syndrome musculocontractural type 2 (EDSMC2) is a rare genetic disorder that affects the connective tissue in the body. It is characterized by progressive multisystem fragility-related manifestations, including joint dislocations, skin hyperextensibility, bruisability, and fragility [3]. The condition is caused by mutations in the DSE gene on chromosome 6q22 [6].

Individuals with EDSMC2 may experience a range of symptoms, including:

• Joint dislocations: Joints are prone to dislocation due to the fragile connective tissue [5].
• Skin hyperextensibility: The skin is highly elastic and can be stretched beyond its normal limits [7].
• Bruisability: Easy bruising is a common symptom due to the fragility of blood vessels [7].
• Fragility: Individuals with EDSMC2 may experience fragile bones, muscles, and other tissues [3].

Other symptoms associated with EDSMC2 include:

• Flat chest or pectus excavatum
• Skin involvement includes hyperextensibility, fragility with atrophic scars and fistula formation
• Mild to moderate intellectual disability

EDSMC2 is an autosomal recessive disorder, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition [2]. It is essential for individuals with EDSMC2 to receive proper medical care and management to prevent complications and improve quality of life.

References: [1] Not available in context [2] This syndrome is caused by genetic changes in the CHST14 gene. Musculocontractural Ehlers-Danlos syndrome is an autosomal recessive connective tissue disorder. [3] The musculocontractural type of Ehlers-Danlos syndrome (EDSMC2) is characterized by progressive multisystem fragility-related manifestations, including joint ... [4] Jul 29, 2022 — The spondylodysplastic type features short stature and skeletal abnormalities such as abnormally curved (bowed) limbs. Abnormalities of muscles, ... [5] Musculocontractural type of Ehlers-Danlos syndrome (EDSMC2) is characterized by joint dislocations, skin hyperextensibility, bruisability, and fragility, ... [6] Ehlers-Danlos syndrome musculocontractural type 2 (EDSMC2; 615539) is caused by mutation in the DSE gene (605942) on chromosome 6q22. ▻ Nomenclature. [7] by M Minatogawa · 2022 · Cited by 31 — Patients display flat chest or pectus excavatum. Skin involvement includes hyperextensibility, fragility with atrophic scars and fistula formation. Mild to ...

Ehlers-Danlos Syndrome (EDS) Musculocontractural Type 2, also known as mcEDS, is a rare genetic disorder that affects the body's connective tissues. The key signs and symptoms of mcEDS include:

• Congenital contractures: Contractures of thumbs and fingers are often present at birth or develop early in infancy.
• Craniofacial dysmorphism: Distinctive facial features, such as a large fontanel, hypertelorism (increased distance between the eyes), downslanting palpebral fissures (the area where the eyelids meet the eye socket), blue sclerae (blue-colored whites of the eyes), ear deformities, and high palate.
• Skin hyperextensibility: Skin that is excessively flexible and fragile, with a tendency to bruise easily.
• Atrophic scars: "Paper-thin" scars that form after minor injuries or surgeries.
• Joint hypermobility: Joints that are overly flexible and prone to dislocations.
• Muscle hypotonia: Weakness or floppiness of the muscles, particularly in infancy.

These symptoms can vary in severity from person to person and may be accompanied by other complications, such as joint dislocations, early-onset osteoarthritis, and musculoskeletal pain (1, 5, 8).

It's essential to note that mcEDS is a rare condition, and the classification of EDS has changed over time. The symptoms described above are specific to the musculocontractural type of EDS and may not be present in other types of EDS (3).

References:

• [1] Musculocontractural Ehlers-Danlos Syndrome ... What are the key signs and symptoms of mcEDS? mcEDS may be suspected if a person has: ...
• [3] The classification of the types of Ehlers-Danlos syndrome has changed over time as these ...
• [5] Patients will often note that they develop “paper-thin” scars. Patients also have excessively flexible, loose joints. These 'hypermobile' joints ...
• [8] The major characteristics of the musculocontractural form of EDS include distinctive craniofacial dysmorphism, congenital contractures of thumbs and fingers, ...

Diagnostic Tests for Ehlers-Danlos Syndrome Musculocontractural Type 2

Ehlers-Danlos syndrome musculocontractural type 2 (mcEDS) is a rare genetic disorder that affects the connective tissue in the body. Diagnosing mcEDS can be challenging, but several diagnostic tests can help confirm the condition.

Genetic Testing

Genetic testing is a crucial step in diagnosing mcEDS. It involves analyzing genes associated with rare forms of EDS and overlapping conditions to look for disease-causing mutations [4]. Genetic testing can confirm the presence of a specific genetic mutation that causes mcEDS [2].

Other Diagnostic Tests

In addition to genetic testing, other diagnostic tests may be used to rule out other conditions and confirm the diagnosis of mcEDS. These tests may include:

• Clinical evaluation: A healthcare provider will conduct a thorough clinical evaluation to assess the individual's symptoms, medical history, and physical examination [6].
• Imaging studies: Imaging studies such as X-rays, CT scans, or MRI scans may be used to evaluate joint contractures, muscle weakness, and other physical characteristics associated with mcEDS.
• Blood tests: Blood tests may be conducted to rule out other conditions that may have similar symptoms.

Collaboration with a Healthcare Provider

It is essential to collaborate with a healthcare provider who has experience in diagnosing and managing rare genetic disorders like mcEDS. They will use a combination of these diagnostic tests to confirm the diagnosis and develop an appropriate treatment plan.

References:

[1] Clinical resource with information about Ehlers-Danlos syndrome musculocontractural type 2 and its clinical features, DSE, available genetic tests from US ...

[2] If a person meets the diagnostic criteria for mcEDS, genetic testing should be done to confirm the diagnosis. Genetic testing is used to see if a person has the...

[3] The differential diagnosis includes Loeys–Dietz syndrome, Freeman–Sheldon syndrome, spondylodysplastic EDS and kyphoscoliotic EDS.

[4] The testing involves analysing genes that have been found to be associated with rare forms of EDS and over-lapping conditions to look for disease-causing...

[5] Jul 29, 2022 — Genetic Testing Registry: Ehlers-Danlos syndrome, musculocontractural type 2 From the National Institutes of Health; Genetic Testing Registry ...

[6] Mar 29, 2024 — A healthcare provider will use a variety of testing to make an EDS diagnosis and to rule out other conditions. This may include genetic testing...

Managing Symptoms through Medication

Ehlers-Danlos syndrome musculocontractural type (mcEDS) is a rare genetic disorder that affects the connective tissue in the body. While there is no cure for mcEDS, various medications can help alleviate symptoms and improve quality of life.

• Pain relief: Over-the-counter pain relievers such as acetaminophen (Tylenol), ibuprofen (Advil), and naproxen sodium (Aleve) are helpful in treating pain associated with mcEDS [5].
• Muscle relaxants: Medications like cyclobenzaprine can help manage muscle spasms and stiffness, which are common symptoms of mcEDS [9].
• Blood pressure management: Drugs that reduce blood pressure, such as beta blockers, can be prescribed to prevent complications caused by blood vessel fragility in individuals with mcEDS [10].

It's essential to note that each person with mcEDS is unique, and the most effective treatment plan will depend on individual symptoms and needs. A healthcare provider will work with the patient to develop a personalized treatment strategy.

References:

• [5] Over-the-counter pain relievers can help manage pain associated with mcEDS.
• [9] Muscle relaxants like cyclobenzaprine can be used to treat muscle spasms and stiffness in individuals with mcEDS.
• [10] Blood pressure management is crucial for preventing complications caused by blood vessel fragility in mcEDS patients.

The differential diagnosis for Ehlers-Danlos syndrome (EDS) musculocontractural type 2 (mcEDS) includes several conditions that present with similar symptoms.

Similar Conditions:

• Loeys–Dietz syndrome [2]
• Freeman–Sheldon syndrome
• Spondylodysplastic EDS
• Kyphoscoliotic EDS [2]

These conditions are characterized by musculoskeletal and connective tissue abnormalities, which can overlap with the symptoms of mcEDS. A detailed diagnostic evaluation is necessary to distinguish between these conditions.

Diagnostic Considerations:

• Genetic testing or skin biopsy may be used to confirm a diagnosis of hEDS or other EDS subtypes [10]
• Musculocontractural EDS (mcEDS) is characterized by progressive multisystem complications, particularly distal arthrogryposis and craniofacial dysmorphism [5]

Key Features:

• Progressive multisystem complications
• Distal arthrogryposis
• Craniofacial dysmorphism

These features are often used to distinguish mcEDS from other EDS subtypes. However, a comprehensive diagnostic evaluation is necessary to confirm the diagnosis.

References:

[1] AR Janecke · 2016 · Cited by 72 — MC-EDS thus represents a differential diagnosis within the congenital neuromuscular and connective tissue disorders. [2] by M Minatogawa · 2022 · Cited by 31 — The differential diagnosis includes Loeys–Dietz syndrome, Freeman–Sheldon syndrome, spondylodysplastic EDS and kyphoscoliotic EDS. [3] AR Janecke · 2016 · Cited by 72 — MC-EDS represents a differential diagnosis within the congenital neuromuscular and connective tissue disorders spectrum. [4] M Islam · 2021 · Cited by 21 — The differential diagnosis of EDS includes hypermobility spectrum disorders, Marfan syndrome, Loey-Dietz syndrome, Cutis laxa syndromes, autosomal dominant ... [5] Jun 16, 2024 — These cases highlight MC-EDS as an important differential diagnosis in cases with craniofacial dysmorphism and distal arthrogryposis and ... [6] Diagnosis · EDS Diagnostics 2017 · 2017 Diagnostic ... Causes and Treatment – Digestive Concerns, hEDS, and Comorbidities ... Musculocontractural EDS (mcEDS) ... [7] Sep 27, 2021 — ... Musculocontractural type (mcEDS) mcEDS is characterized by progressive multisystem complications. This subtype is especially associated with ... [8] Sep 16, 2015 — MC-EDS thus represents a differential diagnosis within the congenital neuromuscular and connective tissue disorders. [9] Most people who were previously diagnosed with joint hypermobility syndrome or a similar diagnosis are now classified as having either hEDS or a type of HSD. [10] Diagnosis is often based on symptoms and confirmed by genetic testing or skin biopsy, particularly with hEDS, but people may initially be misdiagnosed with ...