Overview
Alpha-B crystallin-related late-onset myopathy is a rare inherited muscle disease caused by changes (mutations) in the CRYAB gene. This gene provides instructions for making a protein called alpha-B crystallin, which plays an important role in protecting muscle cells from stress and damage. When this protein does not work properly, muscle fibers gradually break down over time, leading to progressive muscle weakness. This condition typically begins in adulthood, often after age 40, and primarily affects the muscles of the limbs. People with this disease may first notice difficulty walking, climbing stairs, or lifting objects. Over time, the weakness can spread to other muscle groups. Some patients may also develop problems with their heart muscle (cardiomyopathy) or develop cataracts, since alpha-B crystallin is also found in the eye lens and heart tissue. There is currently no cure for this condition. Treatment focuses on managing symptoms, maintaining mobility through physical therapy, and monitoring for heart involvement. The disease tends to progress slowly, but the rate of progression can vary from person to person. Because it is so rare, awareness among healthcare providers is limited, which can lead to delays in diagnosis.
Also known as:
Key symptoms:
Progressive muscle weakness in the arms and legsDifficulty walking or climbing stairsTrouble lifting objects overheadMuscle wasting (loss of muscle bulk)Stiffness or rigidity in musclesDifficulty swallowing in some casesHeart muscle problems (cardiomyopathy)Cataracts or vision changesFatigue and reduced enduranceBreathing difficulties in advanced stagesMuscle cramps or painDifficulty rising from a seated position
Clinical phenotype terms (21)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Late onset
Begins later in life, typically after age 50
Treatments
No FDA-approved treatments are currently listed for Alpha-B crystallin-related late-onset myopathy.
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Specialists
View all specialists →No specialists are currently listed for Alpha-B crystallin-related late-onset myopathy.
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 Alpha-B crystallin-related late-onset myopathy.
Community
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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.What specific CRYAB mutation do I have, and does it tell us anything about how my disease might progress?,How often should I have my heart checked for cardiomyopathy?,What type and intensity of exercise is safe and beneficial for me?,Should my family members be tested for this genetic change?,Are there any clinical trials or research studies I could participate in?,What signs should I watch for that would mean I need to come in sooner than my next appointment?,Can you refer me to a physical therapist who has experience with neuromuscular diseases?
Common questions about Alpha-B crystallin-related late-onset myopathy
What is Alpha-B crystallin-related late-onset myopathy?
Alpha-B crystallin-related late-onset myopathy is a rare inherited muscle disease caused by changes (mutations) in the CRYAB gene. This gene provides instructions for making a protein called alpha-B crystallin, which plays an important role in protecting muscle cells from stress and damage. When this protein does not work properly, muscle fibers gradually break down over time, leading to progressive muscle weakness. This condition typically begins in adulthood, often after age 40, and primarily affects the muscles of the limbs. People with this disease may first notice difficulty walking, cli
How is Alpha-B crystallin-related late-onset myopathy inherited?
Alpha-B crystallin-related late-onset myopathy follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Alpha-B crystallin-related late-onset myopathy typically begin?
Typical onset of Alpha-B crystallin-related late-onset myopathy is late onset. Age of onset can vary across affected individuals.