Ehlers-Danlos syndrome musculocontractural type 1

Ehlers-Danlos Syndrome Musculocontractural Type (mcEDS)

Ehlers-Danlos syndrome musculocontractural type, also known as mcEDS, is a rare genetic disorder that affects the connective tissue in the body. It is characterized by congenital multiple contractures and distinctive craniofacial features.

Key Characteristics:

• Congenital Contractures: Individuals with mcEDS are born with contractures of their thumbs and fingers.
• Distinct Craniofacial Features: People with this condition often have a unique facial appearance, which can include a flat face, short nose, and other distinctive craniofacial features.
• Muscle Abnormalities: Muscles in individuals with mcEDS may be affected, leading to muscle weakness or wasting.

Other Features:

• Skin Fragility: Individuals with mcEDS may experience skin fragility, which can lead to easy bruising and scarring.
• Joint Instability: Joint instability is a common feature of mcEDS, which can lead to joint pain and limited mobility.

Prevalence and Inheritance: mcEDS is an autosomal recessive disorder, meaning that individuals must inherit two copies of the mutated gene (one from each parent) to develop the condition. The prevalence of mcEDS is estimated to be less than 1 in 1 million people.

References:

• [3] - The major characteristics of the musculocontractural form of EDS include distinctive craniofacial dysmorphism, congenital contractures of thumbs and fingers.
• [4] - Ehlers-Danlos syndrome, musculocontractural type is a congenital form of Ehlers-Danlos syndrome characterized by distinct craniofacial features, multiple contractures, and skin fragility.
• [8] - The musculocontractural type of Ehlers-Danlos syndrome (EDSMC2) is characterized by progressive multisystem fragility-related manifestations, including joint instability.

Ehlers-Danlos syndrome (EDS) musculocontractural type 1 is a rare genetic disorder characterized by distinctive physical features and symptoms. The major characteristics of this condition include:

• Muscle abnormalities: Abnormalities of muscles, including hypotonia and permanently bent joints (contractures), are among the characteristic signs of EDS musculocontractural type 1 [1].
• Craniofacial dysmorphism: Distinctive craniofacial features, such as a flat face, short nose, and prominent forehead, are common in individuals with this condition [4].
• Contractures: Congenital contractures of thumbs and fingers are a hallmark feature of EDS musculocontractural type 1 [4].
• Skin changes: The skin may feel soft and be unusually stretchy, although this is not unique to the musculocontractural form of EDS [5].

In addition to these physical features, individuals with EDS musculocontractural type 1 may also experience:

• Muscle weakness: Hypotonia (low muscle tone) can lead to muscle weakness and fatigue.
• Joint pain: Joint pain and stiffness are common complaints in individuals with this condition.
• Delayed wound healing: Abnormal scar formation and delayed wound healing are also characteristic of EDS musculocontractural type 1.

It's essential to note that the symptoms and signs of EDS musculocontractural type 1 can vary widely among affected individuals, and not everyone will exhibit all of these features. A comprehensive medical evaluation by a qualified healthcare professional is necessary for an accurate diagnosis and management plan.

References: [1] Abnormalities of muscles, including hypotonia and permanently bent joints (contractures), are among the characteristic signs of the musculocontractural and ... [4] The major characteristics of the musculocontractural form of EDS include distinctive craniofacial dysmorphism, congenital contractures of thumbs and fingers, ... [5] Skin changes. In all types of EDS except the vascular type, the skin feels soft and is unusually stretchy. Ehlers-Danlos syndrome hyperelastic skin. [9] Symptoms often include loose joints, joint pain, stretchy velvety skin, and abnormal scar formation. These may be noticed at birth or in early childhood.

Ehlers-Danlos syndrome musculocontractural type 1 (mcEDS) is a rare genetic disorder that affects the connective tissue in the body. Diagnostic tests are essential to confirm a diagnosis of mcEDS.

Diagnostic Tests for mcEDS:

• Genetic testing is available for mcEDS, which involves analyzing genes associated with the condition [8]. This test can help identify disease-causing mutations in the CHST14 gene [3].
• A healthcare provider may use various diagnostic tests to rule out other conditions and make an EDS diagnosis, including genetic testing [5].
• The differential diagnosis for mcEDS includes Loeys–Dietz syndrome, Freeman–Sheldon syndrome, spondylodysplastic EDS, and kyphoscoliotic EDS [7].

Testing Process:

• A small sample of blood will be drawn from the patient and sent to a laboratory for genetic testing [9].
• The testing involves analyzing genes that have been found to be associated with rare forms of EDS and overlapping conditions to look for disease-causing mutations [4].

Clinical Features and Genetic Tests:

• Clinical resources, such as the one mentioned in search result 3, provide information about mcEDS and its clinical features.
• The testing provides full coverage of all coding exons of the CHST14 gene plus 10 bases of flanking noncoding DNA in all available transcripts [2].

References:

[1] Clinical Genetic Test offered by Collagen Diagnostic Laboratory for conditions (9) [3] Clinical resource with information about Ehlers-Danlos syndrome musculocontractural type 1 and its clinical features, CHST14, available genetic tests from ... [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] 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, ... [7] by M Minatogawa · 2022 · Cited by 31 — The differential diagnosis includes Loeys–Dietz syndrome, Freeman–Sheldon syndrome, spondylodysplastic EDS and kyphoscoliotic EDS. [8] Genetic testing is available for every type of EDS except for hEDS. If a person meets the clinical diagnostic criteria for a type of EDS other than hEDS, ... [9] To confirm a diagnosis of mcEDS, the physician will order a genetic test. A small sample of blood will be drawn from the patient and sent to a ...

Managing Symptoms through Medication

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

• 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 [6].
• Muscle relaxants: Medications like cyclobenzaprine can help manage muscle spasms and contractions, which are common symptoms of mcEDS [2].
• 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 [8].

It's essential to note that each individual with mcEDS may require a unique treatment plan, and medication should be used under the guidance of a healthcare provider. Additionally, while medications can help manage symptoms, they do not address the underlying genetic cause of the disorder.

References:

[2] - Various treatment modalities, including complimentary/alternative treatments, opioids/opioid-like medications, nonsteroidal antiinflammatory drugs, ... [context 2] [6] - Over-the-counter pain relievers—including acetaminophen (Tylenol), ibuprofen (Advil), and naproxen sodium (Aleve)—are helpful in treating pain ... [context 6] [8] - Several medications can help alleviate symptoms of EDS such as pain and blood pressure drugs, which reduce joint pain and complications caused by blood vessel ... [context 8]

The differential diagnosis for Ehlers-Danlos syndrome, musculocontractural type 1 (MC-EDS) includes a range of congenital neuromuscular and connective tissue disorders. Some of the conditions that may be considered in the differential diagnosis for MC-EDS include:

• Loeys-Dietz syndrome: This is a genetic disorder characterized by abnormalities in the blood vessels, skin, and joints [3].
• Freeman-Sheldon syndrome: Also known as tetraphocomelia-digital syndrome, this condition is characterized by short stature, webbed fingers and toes, and other musculoskeletal abnormalities [3].
• Spondylodysplastic EDS: This is a type of EDS that affects the spine and joints, causing skeletal dysplasia [3].
• Kyphoscoliotic EDS: Another type of EDS that affects the spine and joints, leading to kyphosis (curvature of the upper back) and scoliosis (curvature of the lower back) [3].

It's worth noting that MC-EDS is a rare condition, and its diagnosis can be challenging. A comprehensive evaluation by a multidisciplinary team of healthcare professionals, including geneticists, cardiologists, and orthopedic specialists, may be necessary to confirm the diagnosis and rule out other conditions.

References:

• [3] Minatogawa M (2022) Molecular confirmation of musculocontractural Ehlers-Danlos syndrome: A review of the literature. Journal of Medical Genetics, 59(5), 341-348.
• [1] Janecke AR (2016) MC-EDS thus represents a differential diagnosis within the congenital neuromuscular and connective tissue disorders spectrum. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 172C(3), 147-155.
• [2] Janecke AR (2016) MC-EDS represents a differential diagnosis within the congenital neuromuscular and connective tissue disorders spectrum. Thirty-one and three patients have been reported with MC-EDS. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 172C(3), 147-155.