Autosomal recessive myogenic arthrogryposis multiplex congenita

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ORPHA:319332OMIM:618484Q74.3
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Overview

Autosomal recessive myogenic arthrogryposis multiplex congenita is a rare inherited condition that affects the muscles and joints. The term 'arthrogryposis multiplex congenita' (often shortened to AMC) refers to a group of conditions where a baby is born with stiff, curved joints (called contractures) in two or more areas of the body. In this specific form, the joint problems are caused by abnormal development or function of the muscles (which is what 'myogenic' means). Because the muscles do not work properly during pregnancy, the baby does not move enough in the womb, and the joints become fixed in unusual positions. Babies with this condition are typically born with multiple joint contractures that can affect the arms, legs, hands, feet, and sometimes the spine. Muscle weakness is a core feature, and the severity can vary widely from person to person. Some children may have difficulty breathing if the muscles involved in breathing are affected. Feeding difficulties may also occur in the newborn period. There is currently no cure for this condition. Treatment focuses on improving joint movement and function through physical therapy, occupational therapy, serial casting, and sometimes surgery to release tight joints. Early and consistent therapy can make a meaningful difference in a child's mobility and independence. A team of specialists typically works together to manage the various aspects of this condition.

Also known as:

Key symptoms:

Stiff or locked joints at birth (joint contractures)Muscle weaknessReduced movement of arms and legsCurved or bent fingers and handsClubfoot or other foot deformitiesThin or underdeveloped musclesDifficulty feeding as a newbornBreathing difficulties in severe casesLimited range of motion in multiple jointsDecreased fetal movement during pregnancyHip dislocationScoliosis or spinal curvatureDifficulty with fine motor skills

Clinical phenotype terms (30)— hover any for plain English
Bilateral talipes equinovarusHP:0001776Generalized neonatal hypotoniaHP:0008935Fatiguable weakness of proximal limb musclesHP:0030200Bilateral facial palsyHP:0430025Hand clenchingHP:0001188
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

No FDA-approved treatments are currently listed for Autosomal recessive myogenic arthrogryposis multiplex congenita.

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No specialists are currently listed for Autosomal recessive myogenic arthrogryposis multiplex congenita.

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

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Community

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Caregiver Resources

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Questions for your doctor

Bring these to your next appointment

  • Q1.What is the specific genetic cause of my child's condition, and has genetic testing been completed?,How severe is the muscle involvement, and are the breathing muscles affected?,What therapies should we start right away, and how often should they occur?,Will my child need surgery, and if so, when is the best time?,What is the long-term outlook for my child's mobility and independence?,Are there clinical trials or research studies we should know about?,What is the chance of having another child with this condition, and is prenatal testing available?

Common questions about Autosomal recessive myogenic arthrogryposis multiplex congenita

What is Autosomal recessive myogenic arthrogryposis multiplex congenita?

Autosomal recessive myogenic arthrogryposis multiplex congenita is a rare inherited condition that affects the muscles and joints. The term 'arthrogryposis multiplex congenita' (often shortened to AMC) refers to a group of conditions where a baby is born with stiff, curved joints (called contractures) in two or more areas of the body. In this specific form, the joint problems are caused by abnormal development or function of the muscles (which is what 'myogenic' means). Because the muscles do not work properly during pregnancy, the baby does not move enough in the womb, and the joints become f

How is Autosomal recessive myogenic arthrogryposis multiplex congenita inherited?

Autosomal recessive myogenic arthrogryposis multiplex congenita follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Autosomal recessive myogenic arthrogryposis multiplex congenita typically begin?

Typical onset of Autosomal recessive myogenic arthrogryposis multiplex congenita is neonatal. Age of onset can vary across affected individuals.