Overview
Congenital myopathy with protein accumulation is a very rare inherited muscle disorder that belongs to a group of conditions called congenital myopathies. In this condition, abnormal clumps or deposits of proteins build up inside muscle cells, which interferes with how the muscles work. This leads to muscle weakness that is usually present from birth or early infancy. The term 'OBSOLETE' in the official disease name means that this classification has been retired or merged into other, more specific diagnoses as medical understanding has improved. Patients originally diagnosed with this condition may now be reclassified under more specific types of congenital myopathy based on the particular protein that accumulates, such as myosin storage myopathy, cap myopathy, or other subtypes. The main symptoms include generalized muscle weakness, low muscle tone (floppiness), difficulty with motor milestones like sitting and walking, and sometimes breathing difficulties. The severity can range from mild weakness to more significant disability. Some patients may also experience feeding difficulties in infancy and skeletal problems such as scoliosis over time. There is currently no cure for congenital myopathies with protein accumulation. Treatment focuses on managing symptoms and may include physical therapy, respiratory support, orthopedic interventions, and nutritional support. Advances in genetic testing have helped doctors better classify these conditions, which is important for understanding prognosis and guiding care.
Key symptoms:
Muscle weakness present from birth or early lifeLow muscle tone (floppiness)Delayed motor milestones such as sitting and walkingDifficulty breathingFeeding difficulties in infancyCurved spine (scoliosis)Joint stiffness or contracturesFacial muscle weaknessFatigue and low enduranceDifficulty swallowingThin or underdeveloped musclesFrequent respiratory infections
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for OBSOLETE: Congenital myopathy with protein accumulation.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for OBSOLETE: Congenital myopathy with protein accumulation at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Congenital myopathy with protein accumulation.
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
Financial Resources
1 resourcesTECENTRIQ
Genentech, Inc.
TECENTRIQ Patient Support (Genentech Access Solutions)
Travel Grants
No travel grants are currently matched to OBSOLETE: Congenital myopathy with protein accumulation.
Community
No community posts yet. Be the first to share your experience with OBSOLETE: Congenital myopathy with protein accumulation.
Start the conversation →Latest news about OBSOLETE: Congenital myopathy with protein accumulation
No recent news articles for OBSOLETE: Congenital myopathy with protein accumulation.
Follow this condition to be notified when news becomes available.
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 subtype of congenital myopathy does my child or I have, and what gene is involved?,What is the expected course of this condition over time?,How often should breathing function be monitored?,What therapies (physical, occupational, speech) are recommended and how often?,Are there any clinical trials or emerging treatments we should know about?,What precautions should we take regarding anesthesia and surgery?,Should other family members be tested genetically?
Common questions about OBSOLETE: Congenital myopathy with protein accumulation
What is OBSOLETE: Congenital myopathy with protein accumulation?
Congenital myopathy with protein accumulation is a very rare inherited muscle disorder that belongs to a group of conditions called congenital myopathies. In this condition, abnormal clumps or deposits of proteins build up inside muscle cells, which interferes with how the muscles work. This leads to muscle weakness that is usually present from birth or early infancy. The term 'OBSOLETE' in the official disease name means that this classification has been retired or merged into other, more specific diagnoses as medical understanding has improved. Patients originally diagnosed with this conditi
At what age does OBSOLETE: Congenital myopathy with protein accumulation typically begin?
Typical onset of OBSOLETE: Congenital myopathy with protein accumulation is neonatal. Age of onset can vary across affected individuals.
What treatment and support options exist for OBSOLETE: Congenital myopathy with protein accumulation?
1 patient support program are currently tracked on UniteRare for OBSOLETE: Congenital myopathy with protein accumulation. See the treatments and support programs sections for copay assistance, eligibility, and contact details.