Overview
Autosomal dominant childhood-onset proximal spinal muscular atrophy is a rare genetic condition that affects the nerve cells in the spinal cord responsible for controlling muscles, known as motor neurons. Unlike the more commonly known forms of spinal muscular atrophy (SMA) caused by changes in the SMN1 gene, this form follows an autosomal dominant inheritance pattern, meaning only one copy of the altered gene is needed to cause the disease. It typically begins during childhood and primarily affects the muscles closest to the center of the body (proximal muscles), such as those in the hips, thighs, shoulders, and upper arms. Children with this condition usually develop progressive muscle weakness that makes activities like climbing stairs, running, standing up from a seated position, and lifting their arms increasingly difficult over time. The weakness tends to be symmetrical, affecting both sides of the body similarly. Some individuals may also experience muscle wasting (atrophy) and reduced or absent deep tendon reflexes. The severity and rate of progression can vary between affected individuals, even within the same family. There is currently no cure for this condition. Treatment focuses on managing symptoms and maintaining function for as long as possible. This typically involves physical therapy, occupational therapy, orthopedic interventions, and assistive devices. The newer SMA therapies approved for SMN1-related SMA (such as nusinersen, onasemnogene abeparvovec, and risdiplam) are not applicable to this form since it involves a different genetic cause. Research into the specific genetic mechanisms continues, and affected families are encouraged to work closely with a team of specialists.
Also known as:
Key symptoms:
Weakness in muscles close to the body (hips, shoulders, thighs, upper arms)Difficulty climbing stairsTrouble standing up from a sitting or lying positionDifficulty running or keeping up with peersMuscle wasting or thinning, especially in the legs and armsReduced or absent reflexesWaddling gait or unusual walking patternDifficulty lifting arms above the headFatigue during physical activitiesPossible mild tremor in the fingers (fasciculations)Progressive loss of muscle strength over timePossible development of scoliosis (curved spine)
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 Autosomal dominant childhood-onset proximal spinal muscular atrophy.
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Specialists
View all specialists →No specialists are currently listed for 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 Autosomal dominant childhood-onset proximal spinal muscular atrophy.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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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.What specific genetic test was used to confirm this diagnosis, and is further testing recommended for our family?,How quickly is this condition likely to progress in my child's case?,What physical therapy and exercise programs are recommended to maintain strength?,Are there any clinical trials or research studies we should know about?,When should we start monitoring breathing function, and how often?,What school accommodations should we request for my child?,Should other family members be tested for this genetic change?
Common questions about Autosomal dominant childhood-onset proximal spinal muscular atrophy
What is Autosomal dominant childhood-onset proximal spinal muscular atrophy?
Autosomal dominant childhood-onset proximal spinal muscular atrophy is a rare genetic condition that affects the nerve cells in the spinal cord responsible for controlling muscles, known as motor neurons. Unlike the more commonly known forms of spinal muscular atrophy (SMA) caused by changes in the SMN1 gene, this form follows an autosomal dominant inheritance pattern, meaning only one copy of the altered gene is needed to cause the disease. It typically begins during childhood and primarily affects the muscles closest to the center of the body (proximal muscles), such as those in the hips, th
How is Autosomal dominant childhood-onset proximal spinal muscular atrophy inherited?
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 Autosomal dominant childhood-onset proximal spinal muscular atrophy typically begin?
Typical onset of Autosomal dominant childhood-onset proximal spinal muscular atrophy is childhood. Age of onset can vary across affected individuals.