Overview
Distal myopathy, Tateyama type is a very rare inherited muscle disease that mainly affects the muscles farthest from the center of the body — such as those in the hands, forearms, lower legs, and feet. It belongs to a group of conditions called distal myopathies, which are disorders where muscle weakness starts in the hands and feet rather than the hips or shoulders. This condition is caused by changes (mutations) in the CAV3 gene, which provides instructions for making a protein called caveolin-3. This protein is important for keeping muscle cell membranes healthy and working properly. People with Tateyama type distal myopathy typically notice weakness and wasting (shrinking) of muscles in the lower legs and feet, which can make walking difficult over time. The condition usually begins in adulthood. Muscle enzymes in the blood, particularly creatine kinase (CK), are often elevated, which is a sign that muscle cells are being damaged. There is currently no cure for this condition. Treatment focuses on managing symptoms, maintaining mobility, and improving quality of life through physical therapy, occupational therapy, and supportive devices such as ankle braces or orthotics. A team of specialists including neurologists and physiatrists typically guides care. Because this disease is extremely rare, much of what is known comes from a small number of reported cases, primarily from Japan.
Key symptoms:
Weakness in the lower leg and foot musclesDifficulty lifting the front of the foot (foot drop)Muscle wasting (shrinking) in the lower legs and feetWeakness in the hands and forearmsDifficulty walking or changes in the way you walkElevated creatine kinase (CK) levels in the blood, indicating muscle damageMuscle cramps or stiffnessReduced grip strength
Clinical phenotype terms (18)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Adult
Begins in adulthood (age 18 or older)
Treatments
No FDA-approved treatments are currently listed for Distal myopathy, Tateyama type.
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Specialists
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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 Distal myopathy, Tateyama type.
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Caregiver Resources
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Social Security Disability
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Questions for your doctor
Bring these to your next appointment
- Q1.What genetic testing do you recommend to confirm my diagnosis, and should my family members be tested?,How quickly do you expect my muscle weakness to progress, based on what is known about this condition?,What physical therapy or exercise program is safe and beneficial for me right now?,Are there any clinical trials or research studies I could participate in?,What warning signs should prompt me to contact you or seek urgent care?,Are there any other specialists I should see, such as a rehabilitation doctor or orthopedic specialist?,Are there any patient registries or support groups for CAV3-related muscle diseases that I can join?
Common questions about Distal myopathy, Tateyama type
What is Distal myopathy, Tateyama type?
Distal myopathy, Tateyama type is a very rare inherited muscle disease that mainly affects the muscles farthest from the center of the body — such as those in the hands, forearms, lower legs, and feet. It belongs to a group of conditions called distal myopathies, which are disorders where muscle weakness starts in the hands and feet rather than the hips or shoulders. This condition is caused by changes (mutations) in the CAV3 gene, which provides instructions for making a protein called caveolin-3. This protein is important for keeping muscle cell membranes healthy and working properly. Peopl
How is Distal myopathy, Tateyama type inherited?
Distal myopathy, Tateyama type follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Distal myopathy, Tateyama type typically begin?
Typical onset of Distal myopathy, Tateyama type is adult. Age of onset can vary across affected individuals.