Overview
Congenital myopathy with vacuoles is an extremely rare inherited muscle disorder that was previously recognized as a distinct condition in medical databases but has since been reclassified (marked as 'obsolete' in Orphanet). This means that cases once grouped under this name are now understood to fall under other, more precisely defined congenital myopathy subtypes. Congenital myopathies are a group of muscle diseases present from birth or early infancy that cause muscle weakness and poor muscle tone (hypotonia). In this particular form, muscle biopsy samples showed characteristic tiny fluid-filled spaces called vacuoles within the muscle fibers, which helped distinguish it from other congenital myopathies at the time. Patients with this condition typically experienced generalized muscle weakness, reduced muscle tone from birth, delayed motor milestones such as sitting and walking, and sometimes breathing difficulties. The severity could range from mild weakness to more significant disability. Because this diagnosis is now obsolete, patients who were previously given this label may benefit from updated genetic testing and re-evaluation to receive a more specific and current diagnosis. Treatment has generally been supportive, focusing on physical therapy, respiratory support when needed, and orthopedic management. There are no specific curative therapies, but advances in genetic understanding continue to improve diagnosis and may open doors to targeted treatments in the future.
Key symptoms:
Muscle weakness present from birthLow muscle tone (floppy baby)Delayed motor milestones like sitting and walkingDifficulty breathingFeeding difficulties in infancyFatigue and reduced enduranceThin or underdeveloped musclesSkeletal abnormalities such as scoliosisJoint contractures (stiff joints)Facial muscle weaknessDifficulty swallowing
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 vacuoles.
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Congenital myopathy with vacuoles.
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 OBSOLETE: Congenital myopathy with vacuoles.
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Caregiver Resources
NORD Caregiver Resources
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Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
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Questions for your doctor
Bring these to your next appointment
- Q1.Since this diagnosis is now considered obsolete, what is my (or my child's) updated diagnosis?,Should we pursue updated genetic testing such as whole exome sequencing?,What is the expected course of this condition based on the specific genetic findings?,What therapies and supports should we start right away?,Are there any clinical trials or emerging treatments that might be relevant?,How should we monitor and manage breathing problems?,What specialists should be part of our care team?
Common questions about OBSOLETE: Congenital myopathy with vacuoles
What is OBSOLETE: Congenital myopathy with vacuoles?
Congenital myopathy with vacuoles is an extremely rare inherited muscle disorder that was previously recognized as a distinct condition in medical databases but has since been reclassified (marked as 'obsolete' in Orphanet). This means that cases once grouped under this name are now understood to fall under other, more precisely defined congenital myopathy subtypes. Congenital myopathies are a group of muscle diseases present from birth or early infancy that cause muscle weakness and poor muscle tone (hypotonia). In this particular form, muscle biopsy samples showed characteristic tiny fluid-f
At what age does OBSOLETE: Congenital myopathy with vacuoles typically begin?
Typical onset of OBSOLETE: Congenital myopathy with vacuoles is neonatal. Age of onset can vary across affected individuals.