Myelic limited dorsal malformation

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ORPHA:645378Q06.8
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8Treatment centers

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Overview

Myelic limited dorsal malformation is an extremely rare congenital condition that affects the spinal cord (also called the myelon). It falls under the broader category of spinal cord malformations classified as Q06.8 in the ICD-10 system, which covers "other specified congenital malformations of the spinal cord." In this condition, there is an abnormal development of the dorsal (back) portion of the spinal cord during embryonic growth. The dorsal part of the spinal cord is important because it carries sensory information from the body to the brain. When this area does not form correctly, it can lead to problems with sensation, movement, or other neurological functions depending on the level and extent of the malformation. Because this is an exceptionally rare condition, detailed clinical descriptions in the medical literature are very limited. Symptoms may vary widely depending on the specific location and severity of the malformation along the spinal cord. Some patients may have mild symptoms, while others could experience more significant neurological difficulties. The condition is typically present from birth, though it may not always be recognized immediately. Diagnosis usually involves advanced imaging of the spine. Treatment is generally supportive and tailored to each patient's specific symptoms, and may include surgical intervention in some cases, physical therapy, and ongoing neurological monitoring. There is currently no cure, and management focuses on optimizing function and quality of life.

Also known as:

Key symptoms:

Numbness or reduced sensation in parts of the bodyMuscle weakness in the legs or armsDifficulty with bladder or bowel controlAbnormal reflexesBack pain or stiffnessDifficulty walking or problems with balanceSkin changes or dimples over the spineScoliosis or other spinal curvatureTethered spinal cord symptomsFoot deformities such as clubfoot

Age of Onset

Neonatal

Begins at or shortly after birth (first 4 weeks)

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Myelic limited dorsal malformation.

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No actively recruiting trials found for Myelic limited dorsal malformation at this time.

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No specialists are currently listed for Myelic limited dorsal malformation.

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 Myelic limited dorsal malformation.

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Community

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Latest news about Myelic limited dorsal malformation

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Caregiver Resources

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Family & Caregiver Grants

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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.What is the exact location and extent of my child's spinal cord malformation?,Is surgery needed now, or can we monitor the condition over time?,What symptoms should I watch for that would require urgent medical attention?,How often should we have follow-up MRI scans or neurological evaluations?,What therapies (physical, occupational) would benefit my child the most?,Are there any bladder or bowel management strategies we should start now?,Are there any research studies or clinical trials we could participate in?

Common questions about Myelic limited dorsal malformation

What is Myelic limited dorsal malformation?

Myelic limited dorsal malformation is an extremely rare congenital condition that affects the spinal cord (also called the myelon). It falls under the broader category of spinal cord malformations classified as Q06.8 in the ICD-10 system, which covers "other specified congenital malformations of the spinal cord." In this condition, there is an abnormal development of the dorsal (back) portion of the spinal cord during embryonic growth. The dorsal part of the spinal cord is important because it carries sensory information from the body to the brain. When this area does not form correctly, it ca

At what age does Myelic limited dorsal malformation typically begin?

Typical onset of Myelic limited dorsal malformation is neonatal. Age of onset can vary across affected individuals.