Overview
BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy is a rare genetic condition that affects the nerve cells (motor neurons) in the spinal cord that control muscle movement. It is sometimes called SMALED2 (spinal muscular atrophy, lower extremity-predominant 2) or BICD2-related SMA. The disease is caused by changes (mutations) in the BICD2 gene, which plays an important role in how cells transport materials internally. This condition primarily causes weakness in the muscles closest to the center of the body, especially in the legs. Children with this disease often have difficulty walking, may walk on their toes, and can develop joint stiffness (contractures) over time. The weakness tends to affect the legs more than the arms. Symptoms usually begin in childhood, though the exact age of onset and severity can vary even within the same family. Some individuals are more mildly affected while others may need mobility aids. There is currently no cure for this condition. Treatment focuses on managing symptoms and maintaining function through physical therapy, orthopedic interventions, and supportive care. The disease tends to progress slowly, and many affected individuals maintain the ability to walk into adulthood, though some may experience gradual worsening of muscle weakness over time. Research into the underlying biology of BICD2 and motor neuron diseases continues, offering hope for future targeted therapies.
Also known as:
Key symptoms:
Weakness in the leg muscles, especially those close to the hips and thighsDifficulty walking or abnormal walking patternToe walkingMuscle wasting (thinning) in the legsJoint stiffness or contractures, especially in the ankles and kneesDelayed motor milestones such as walkingReduced muscle tone in infancyFoot deformities such as high arches or clubfootMild arm weakness in some casesUneven leg length or asymmetric weaknessDifficulty running or climbing stairsFatigue during physical activities
Clinical phenotype terms (17)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy.
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Specialists
View all specialists →No specialists are currently listed for BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy.
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 BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy.
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
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 my child's condition based on the specific BICD2 mutation found, and what can we expect over time?,What physical therapy program do you recommend, and how often should sessions occur?,Are there any clinical trials or research studies my child might be eligible for?,What orthopedic interventions might be needed, and when should we consider them?,How should we communicate with the school about accommodations for my child?,Should other family members be tested for this gene change?,What signs of progression should we watch for, and when should we contact you?
Common questions about BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy
What is BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy?
BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy is a rare genetic condition that affects the nerve cells (motor neurons) in the spinal cord that control muscle movement. It is sometimes called SMALED2 (spinal muscular atrophy, lower extremity-predominant 2) or BICD2-related SMA. The disease is caused by changes (mutations) in the BICD2 gene, which plays an important role in how cells transport materials internally. This condition primarily causes weakness in the muscles closest to the center of the body, especially in the legs. Children with this disease ofte
How is BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy inherited?
BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy typically begin?
Typical onset of BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy is childhood. Age of onset can vary across affected individuals.