Overview
TNP03-related limb-girdle muscular dystrophy D2, also known as LGMD D2 or TNPO3-related LGMD, is a rare inherited muscle disease caused by changes (mutations) in the TNPO3 gene. This gene provides instructions for making a protein called Transportin-3, which helps move other proteins into the cell's nucleus. When this protein does not work properly, muscle cells gradually break down and weaken over time. This condition mainly affects the muscles closest to the center of the body — the hips, thighs, and shoulders — which is why it is called 'limb-girdle' muscular dystrophy. People with this condition typically notice difficulty climbing stairs, rising from a chair, lifting their arms overhead, or keeping up with physical activity. Muscle weakness tends to get worse slowly over many years. Some people may also develop heart or breathing problems as the disease progresses. There is currently no cure for LGMD D2. Treatment focuses on managing symptoms, maintaining strength and mobility through physical therapy, and monitoring for complications such as heart or lung involvement. A team of specialists works together to help people live as fully and comfortably as possible. Early diagnosis is important so that monitoring and supportive care can begin promptly.
Also known as:
Key symptoms:
Weakness in the hip and thigh musclesWeakness in the shoulder and upper arm musclesDifficulty climbing stairs or getting up from a chairTrouble lifting arms above the headWaddling or unusual walking patternMuscle wasting (loss of muscle bulk) around the hips and shouldersFatigue with physical activityPossible heart muscle problems (cardiomyopathy)Possible breathing difficulties as disease progressesElevated blood levels of creatine kinase (a marker of muscle damage)
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 TNP03-related limb-girdle muscular dystrophy D2.
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View all trials with filters →No actively recruiting trials found for TNP03-related limb-girdle muscular dystrophy D2 at this time.
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Rare Disease Specialist
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 TNP03-related limb-girdle muscular dystrophy D2.
Community
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Caregiver Resources
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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 genetic testing do you recommend to confirm my diagnosis, and should my family members be tested?,How often should I have my heart and lungs checked, and what warning signs should prompt me to seek care sooner?,What type of physical therapy is most appropriate for my current level of muscle weakness?,Are there any clinical trials for LGMD D2 or related conditions that I might be eligible for?,At what point might I need breathing support or assistive devices, and how will we know when that time comes?,Are there any activities I should avoid to protect my muscles or heart?,What support services or patient organizations can help me and my family cope with this diagnosis?
Common questions about TNP03-related limb-girdle muscular dystrophy D2
What is TNP03-related limb-girdle muscular dystrophy D2?
TNP03-related limb-girdle muscular dystrophy D2, also known as LGMD D2 or TNPO3-related LGMD, is a rare inherited muscle disease caused by changes (mutations) in the TNPO3 gene. This gene provides instructions for making a protein called Transportin-3, which helps move other proteins into the cell's nucleus. When this protein does not work properly, muscle cells gradually break down and weaken over time. This condition mainly affects the muscles closest to the center of the body — the hips, thighs, and shoulders — which is why it is called 'limb-girdle' muscular dystrophy. People with this co
How is TNP03-related limb-girdle muscular dystrophy D2 inherited?
TNP03-related limb-girdle muscular dystrophy D2 follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does TNP03-related limb-girdle muscular dystrophy D2 typically begin?
Typical onset of TNP03-related limb-girdle muscular dystrophy D2 is adult. Age of onset can vary across affected individuals.
Which specialists treat TNP03-related limb-girdle muscular dystrophy D2?
1 specialists and care centers treating TNP03-related limb-girdle muscular dystrophy D2 are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.