OBSOLETE: Arthrogryposis due to muscular dystrophy

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Overview

Arthrogryposis due to muscular dystrophy is a condition that has been classified as obsolete in medical databases, meaning it is no longer recognized as a distinct standalone diagnosis. The term was historically used to describe a combination of arthrogryposis (a condition where joints are stiff and locked in fixed positions from birth) caused by an underlying muscular dystrophy (a group of genetic diseases that cause progressive muscle weakness and wasting). In these cases, the muscles do not develop or function properly during fetal development, which leads to reduced movement in the womb and results in joint contractures at birth. Because this classification is now obsolete, patients who were previously given this diagnosis would today be classified under more specific forms of muscular dystrophy or congenital arthrogryposis syndromes based on the exact genetic cause. The key features include multiple joint contractures present at birth, significant muscle weakness, reduced muscle bulk, and limited range of motion. Some patients may also experience breathing difficulties and feeding problems. Treatment is primarily supportive and focuses on improving joint mobility through physical therapy, occupational therapy, and sometimes surgical interventions to release tight joints. Management of the underlying muscular dystrophy depends on the specific genetic type identified. Early intervention with stretching, splinting, and adaptive equipment can significantly improve quality of life. Genetic testing is now the cornerstone of reaching a precise diagnosis, which helps guide treatment and predict the disease course more accurately.

Key symptoms:

Stiff or locked joints at birthMuscle weakness from birthReduced muscle massLimited range of motion in arms and legsDifficulty feeding as a newbornBreathing difficultiesDecreased movement noticed before birthAbnormal positioning of hands or feetDifficulty with fine motor skillsDelayed motor milestones such as sitting or walkingScoliosis or curved spineThin or underdeveloped limbs

Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

Age of Onset

Neonatal

Begins at or shortly after birth (first 4 weeks)

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for OBSOLETE: Arthrogryposis due to muscular dystrophy.

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No specialists are currently listed for OBSOLETE: Arthrogryposis due to muscular dystrophy.

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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

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Caregiver Resources

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Questions for your doctor

Bring these to your next appointment

  • Q1.What specific type of muscular dystrophy is causing my child's arthrogryposis?,What genetic testing should be done to get a precise diagnosis?,What is the expected course of this condition over time?,What therapies and interventions will give the best outcomes for joint mobility?,Are there any clinical trials or emerging treatments that might be relevant?,What signs of breathing problems should I watch for at home?,What specialists should be part of my child's care team?

Common questions about OBSOLETE: Arthrogryposis due to muscular dystrophy

What is OBSOLETE: Arthrogryposis due to muscular dystrophy?

Arthrogryposis due to muscular dystrophy is a condition that has been classified as obsolete in medical databases, meaning it is no longer recognized as a distinct standalone diagnosis. The term was historically used to describe a combination of arthrogryposis (a condition where joints are stiff and locked in fixed positions from birth) caused by an underlying muscular dystrophy (a group of genetic diseases that cause progressive muscle weakness and wasting). In these cases, the muscles do not develop or function properly during fetal development, which leads to reduced movement in the womb an

At what age does OBSOLETE: Arthrogryposis due to muscular dystrophy typically begin?

Typical onset of OBSOLETE: Arthrogryposis due to muscular dystrophy is neonatal. Age of onset can vary across affected individuals.