OBSOLETE: Congenital hydromyelia

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ORPHA:268874
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Overview

Congenital hydromyelia is a condition that was previously recognized as a distinct diagnosis but has since been marked as obsolete in medical classification systems, meaning it is no longer used as a standalone diagnosis. Hydromyelia refers to an abnormal widening or dilation of the central canal of the spinal cord, which is the small tube-like channel that runs through the center of the spinal cord. When this condition is present from birth (congenital), it means the central canal of the spinal cord is wider than normal from the time of development in the womb. This is closely related to, and often grouped with, a condition called syringomyelia, where fluid-filled cavities (called syrinxes) form within the spinal cord. In many cases, hydromyelia and syringomyelia are now considered part of the same spectrum of spinal cord abnormalities. Symptoms can include weakness in the arms or legs, numbness, pain, and problems with bladder or bowel control. The condition may also be associated with other developmental abnormalities of the brain and spine, such as Chiari malformation or spina bifida. Treatment depends on the severity of symptoms and may include monitoring, physical therapy, or surgery to relieve pressure on the spinal cord. Because this term is now obsolete, patients with this condition are typically reclassified under related diagnoses such as syringomyelia or hydrosyringomyelia.

Key symptoms:

Weakness in the arms or handsWeakness in the legsNumbness or loss of sensation, especially to pain and temperatureStiffness in the neck or backChronic pain in the neck, shoulders, or backDifficulty with bladder controlDifficulty with bowel controlMuscle wasting, especially in the handsAbnormal curvature of the spine (scoliosis)Difficulty walking or balance problemsHeadachesTingling or burning sensations in the arms or legs

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: Congenital hydromyelia.

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No actively recruiting trials found for OBSOLETE: Congenital hydromyelia at this time.

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No specialists are currently listed for OBSOLETE: Congenital hydromyelia.

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 OBSOLETE: Congenital hydromyelia.

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Community

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Caregiver Resources

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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.How severe is the spinal cord abnormality, and is it likely to get worse over time?,Are there any associated conditions like Chiari malformation that need to be addressed?,How often should MRI scans and neurological exams be repeated?,At what point would surgery be recommended, and what are the risks and benefits?,What physical activities are safe, and which should be avoided?,Are there any therapies that can help maintain or improve function?,Should other family members be screened for spinal abnormalities?

Common questions about OBSOLETE: Congenital hydromyelia

What is OBSOLETE: Congenital hydromyelia?

Congenital hydromyelia is a condition that was previously recognized as a distinct diagnosis but has since been marked as obsolete in medical classification systems, meaning it is no longer used as a standalone diagnosis. Hydromyelia refers to an abnormal widening or dilation of the central canal of the spinal cord, which is the small tube-like channel that runs through the center of the spinal cord. When this condition is present from birth (congenital), it means the central canal of the spinal cord is wider than normal from the time of development in the womb. This is closely related to, and

At what age does OBSOLETE: Congenital hydromyelia typically begin?

Typical onset of OBSOLETE: Congenital hydromyelia is neonatal. Age of onset can vary across affected individuals.