Overview
Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome is a very rare inherited muscle disease. It is sometimes referred to by its Orphanet code ORPHA:496686. The condition mainly affects the muscles throughout the body, causing a specific type of muscle damage called myofibrillar myopathy — this means the tiny building blocks inside muscle fibers break down and stop working properly. Over time, this leads to progressive muscle weakness. The three main features that define this syndrome are: an abnormal forward curvature of the upper spine (called kyphosis), wasting or shrinking of the sides of the tongue (lateral tongue atrophy), and the underlying muscle fiber damage (myofibrillar myopathy). These features together help doctors tell this condition apart from other muscle diseases. Because this is an extremely rare condition, the full picture of how it progresses and how best to treat it is still being studied. There is currently no cure. Treatment focuses on managing symptoms, supporting muscle function, and preventing complications such as breathing problems or spinal deformity. A team of specialists — including neurologists, physiatrists, and orthopedic doctors — typically work together to provide care. Early diagnosis is important so that supportive therapies can begin as soon as possible.
Key symptoms:
Progressive muscle weakness affecting the arms, legs, and trunkAbnormal forward rounding of the upper spine (kyphosis)Wasting or thinning of the sides of the tongueDifficulty swallowing due to tongue and throat muscle involvementReduced muscle tone (hypotonia)Exercise intolerance and easy fatigueDifficulty walking or climbing stairsMuscle stiffness or crampingBreathing difficulties in more advanced stagesPossible speech changes due to tongue muscle involvement
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome.
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Specialists
View all specialists →No specialists are currently listed for Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome.
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 Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome.
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.Which specific gene is causing this condition in my case, and what does that mean for my family members?,How quickly do you expect my symptoms to progress, and what signs should prompt me to seek urgent care?,When should I start regular breathing tests, and at what point might I need breathing support?,What physical therapy program do you recommend, and how often should I attend?,Are there any clinical trials or research studies I might be eligible to join?,Should my children or siblings be tested for this condition?,What dietary changes or swallowing precautions should I consider given the tongue involvement?
Common questions about Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome
What is Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome?
Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome is a very rare inherited muscle disease. It is sometimes referred to by its Orphanet code ORPHA:496686. The condition mainly affects the muscles throughout the body, causing a specific type of muscle damage called myofibrillar myopathy — this means the tiny building blocks inside muscle fibers break down and stop working properly. Over time, this leads to progressive muscle weakness. The three main features that define this syndrome are: an abnormal forward curvature of the upper spine (called kyphosis), wasting or shrinking of th
How is Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome inherited?
Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.