Distal arthrogryposis type 10

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ORPHA:251515OMIM:187370Q68.8
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1FDA treatments8Treatment centers

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Overview

Distal arthrogryposis type 10 (DA10) is a rare genetic condition that mainly affects the muscles and joints, particularly those at the ends of the limbs — the hands, feet, and sometimes the face. 'Arthrogryposis' means that joints are stiff and fixed in unusual positions, often present from birth. In DA10, this stiffness tends to be milder than in some other types of arthrogryposis, but it can still significantly affect how a person moves and functions day to day. The condition is caused by changes (mutations) in the MYMK gene, which plays an important role in how muscle cells fuse together during development. When this process does not work correctly, muscles do not form properly, leading to joint contractures — joints that are stuck in a bent or straightened position. Common features include curved or overlapping fingers, clubfoot or other foot deformities, and sometimes weakness in the facial muscles, which can affect eating and expression. There is currently no cure for DA10, but treatment focuses on improving function and quality of life. Physical therapy, occupational therapy, splinting, and in some cases surgery can help improve joint movement and independence. Many people with DA10 have normal intelligence and a normal life expectancy, though they may need ongoing support to manage physical challenges.

Also known as:

Key symptoms:

Stiff, fixed joints in the hands and feet present from birthCurved or overlapping fingers (camptodactyly)Clubfoot or other foot deformitiesWeakness or underdevelopment of musclesFacial muscle weakness affecting expressions or eatingDifficulty opening the mouth fully (trismus)Short stature in some individualsLimited range of motion in multiple jointsThin or underdeveloped limb muscles

Inheritance

Autosomal recessive

Passed on when both parents carry the same gene change; often skips generations

Age of Onset

Neonatal

Begins at or shortly after birth (first 4 weeks)

Orphanet ↗OMIM ↗NORD ↗

Treatments

1 available

XIAFLEX

collagenase clostridium histolyticum· Auxilium Pharmaceuticals, Inc.■ Boxed Warning

The treatment of adult patients with Dupuytren's contracture with a palpable cord

No actively recruiting trials found for Distal arthrogryposis type 10 at this time.

New trials open frequently. Follow this disease to get notified.

Search ClinicalTrials.gov ↗Join the Distal arthrogryposis type 10 community →

No specialists are currently listed for Distal arthrogryposis type 10.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Distal arthrogryposis type 10.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about Distal arthrogryposis type 10

Disease timeline:

New recruiting trial: Evaluation of Collagen-based Medical Device Treatment Combined With Physiotherapy in Subjects With Achilles Tendinopathy.

A new clinical trial is recruiting patients for Distal arthrogryposis type 10

Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

Mental Health Support

Rare disease caregiving can be isolating. Connect with counseling and peer support.

Family & Caregiver Grants

Financial assistance programs specifically for caregivers of rare disease patients.

Social Security Disability

Learn how rare disease patients may qualify for SSDI/SSI benefits.

Questions for your doctor

Bring these to your next appointment

  • Q1.Which joints are affected in my child, and how severe is the involvement?,What therapies should we start right away, and how often should they happen?,Will my child need surgery, and if so, when is the best time?,Are there other family members who should be tested for the MYMK gene change?,What school or developmental supports should we put in place?,Will the joint stiffness get worse over time, or stay the same?,Are there any clinical trials or research studies we could participate in?

Common questions about Distal arthrogryposis type 10

What is Distal arthrogryposis type 10?

Distal arthrogryposis type 10 (DA10) is a rare genetic condition that mainly affects the muscles and joints, particularly those at the ends of the limbs — the hands, feet, and sometimes the face. 'Arthrogryposis' means that joints are stiff and fixed in unusual positions, often present from birth. In DA10, this stiffness tends to be milder than in some other types of arthrogryposis, but it can still significantly affect how a person moves and functions day to day. The condition is caused by changes (mutations) in the MYMK gene, which plays an important role in how muscle cells fuse together d

How is Distal arthrogryposis type 10 inherited?

Distal arthrogryposis type 10 follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Distal arthrogryposis type 10 typically begin?

Typical onset of Distal arthrogryposis type 10 is neonatal. Age of onset can vary across affected individuals.

What treatment and support options exist for Distal arthrogryposis type 10?

1 patient support program are currently tracked on UniteRare for Distal arthrogryposis type 10. See the treatments and support programs sections for copay assistance, eligibility, and contact details.