Overview
Hypomyelination with brain stem and spinal cord involvement and leg spasticity (often abbreviated as HBSL) is a very rare genetic disorder that affects the brain and spinal cord. It belongs to a group of conditions called leukodystrophies, which involve problems with the white matter of the brain. White matter contains myelin, a protective coating around nerve fibers that helps signals travel quickly and efficiently. In HBSL, the body does not produce enough myelin (a process called hypomyelination), particularly in the brain stem and spinal cord. This leads to a range of neurological problems. The most noticeable symptoms include stiffness and spasticity in the legs, difficulty walking, and problems with coordination and balance. Some patients also experience tremors, difficulty with speech, and mild to moderate intellectual disability. The condition typically begins in infancy or early childhood, when parents may notice that their child is slow to reach motor milestones like sitting, crawling, or walking. The severity can vary from person to person. There is currently no cure for HBSL. Treatment focuses on managing symptoms and improving quality of life. This may include physical therapy to address spasticity and mobility issues, occupational therapy, speech therapy, and medications to reduce muscle stiffness. Because the disease is so rare, research is still ongoing to better understand its progression and to develop more targeted treatments.
Also known as:
Key symptoms:
Leg stiffness and spasticityDifficulty walking or inability to walk independentlyPoor coordination and balanceTremorsDelayed motor milestonesSpeech difficultiesMild to moderate intellectual disabilityAbnormal eye movements (nystagmus)Weakness in the legsDifficulty with fine motor skillsProblems with swallowing in some casesAbnormal reflexes
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Hypomyelination with brain stem and spinal cord involvement and leg spasticity.
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Rare Disease Specialist
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Hypomyelination with brain stem and spinal cord involvement and leg spasticity.
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Questions for your doctor
Bring these to your next appointment
- Q1.What is the expected progression of my child's condition based on their specific genetic mutation?,What therapies should we start right away, and how often should they occur?,Are there any medications that could help with the leg spasticity, and what are the side effects?,How often should we get follow-up MRI scans to monitor the condition?,Are there any clinical trials or research studies we could participate in?,What educational and developmental support services should we arrange?,Should other family members be tested to see if they are carriers of the DARS gene mutation?
Common questions about Hypomyelination with brain stem and spinal cord involvement and leg spasticity
What is Hypomyelination with brain stem and spinal cord involvement and leg spasticity?
Hypomyelination with brain stem and spinal cord involvement and leg spasticity (often abbreviated as HBSL) is a very rare genetic disorder that affects the brain and spinal cord. It belongs to a group of conditions called leukodystrophies, which involve problems with the white matter of the brain. White matter contains myelin, a protective coating around nerve fibers that helps signals travel quickly and efficiently. In HBSL, the body does not produce enough myelin (a process called hypomyelination), particularly in the brain stem and spinal cord. This leads to a range of neurological problems
How is Hypomyelination with brain stem and spinal cord involvement and leg spasticity inherited?
Hypomyelination with brain stem and spinal cord involvement and leg spasticity follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Hypomyelination with brain stem and spinal cord involvement and leg spasticity typically begin?
Typical onset of Hypomyelination with brain stem and spinal cord involvement and leg spasticity is infantile. Age of onset can vary across affected individuals.
Which specialists treat Hypomyelination with brain stem and spinal cord involvement and leg spasticity?
1 specialists and care centers treating Hypomyelination with brain stem and spinal cord involvement and leg spasticity are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.