What is OBSOLETE: Myostatin-related muscle hypertrophy?
Myostatin-related muscle hypertrophy (also known as myostatin-related muscular hypertrophy or muscle hypertrophy syndrome) is a rare genetic condition characterized by significantly increased skeletal muscle mass and reduced body fat. This condition results from mutations in the MSTN gene, which encodes myostatin, a protein that normally acts as a negative regulator of muscle growth. When myostatin function is reduced or absent, muscles grow substantially larger than normal. This entry in Orphanet is marked as OBSOLETE, meaning it may have been reclassified or merged with another entry. Affected individuals typically present with noticeably increased muscle bulk apparent from early childhood, along with increased muscular strength. Importantly, this condition is generally not associated with adverse health effects or medical complications — it primarily manifests as a physical trait of enhanced musculature rather than a debilitating disease. Subcutaneous fat is typically reduced. Cardiac muscle does not appear to be significantly affected based on reported cases. Very few confirmed human cases have been described in the medical literature, making this an exceptionally rare condition. The most well-known case involved a German infant identified in 2004 who displayed extraordinary muscle development at birth. No specific treatment is required or typically pursued, as the condition does not cause functional impairment. Research into the myostatin pathway has generated significant interest for potential therapeutic applications in muscle-wasting diseases such as muscular dystrophies and sarcopenia.
- Inheritance
- Autosomal recessive
- Passed on when both parents carry the same gene change; often skips generations
- Age of Onset
- Neonatal
- Begins at or shortly after birth (first 4 weeks)
Treatments
Source: openFDA + DailyMed · NDA / BLA labels with structured indications · refreshed weekly
No FDA-approved treatments are currently listed for OBSOLETE: Myostatin-related muscle hypertrophy.
View clinical trials →Clinical Trials
View all trials with filters →Source: ClinicalTrials.gov · synced daily · phases, status, and PI names normalized at ingest
No actively recruiting trials found for OBSOLETE: Myostatin-related muscle hypertrophy at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →Source: NPI Registry + PubMed · trial PI roles cross-referenced with ClinicalTrials.gov · ranked by match score (publications + PI activity + community signal)
No specialists are currently listed for OBSOLETE: Myostatin-related muscle hypertrophy.
Treatment Centers
8 centersSource: NORD Rare Disease Centers + NIH Undiagnosed Diseases Network (UDN) · centers verified active within last 12 months
Children's Hospital Colorado Rare Disease Program ↗
Children's Hospital Colorado
📍 Aurora, CO
👤 Boston Children's Hospital Rare Disease Program
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDBoston Children's Hospital Rare Disease Program ↗
Boston Children's Hospital
📍 Boston, MA
👤 Boston Children's Hospital Rare Disease Program
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
🏨 Children'sAnn & Robert H. Lurie Children's Hospital Genetics ↗
Lurie Children's Hospital
📍 Chicago, IL
👤 Boston Children's Hospital Rare Disease Program
🏥 NORDCincinnati Children's Hospital Medical Center ↗
Cincinnati Children's
📍 Cincinnati, OH
👤 Boston Children's Hospital Rare Disease Program
🏨 Children'sNationwide Children's Hospital Rare Disease Center ↗
Nationwide Children's Hospital
📍 Columbus, OH
👤 Boston Children's Hospital Rare Disease Program
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
Travel Grants
No travel grants are currently matched to OBSOLETE: Myostatin-related muscle hypertrophy.
Community
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Start the conversation →Latest news about OBSOLETE: Myostatin-related muscle hypertrophy
Source: PubMed + NIH RePORTER + openFDA + clinical-journal RSS · last 30 days · disease-tagged at ingest by AI extraction with human QC
No recent news articles for OBSOLETE: Myostatin-related muscle hypertrophy.
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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.
Common questions about OBSOLETE: Myostatin-related muscle hypertrophy
What is OBSOLETE: Myostatin-related muscle hypertrophy?
Myostatin-related muscle hypertrophy (also known as myostatin-related muscular hypertrophy or muscle hypertrophy syndrome) is a rare genetic condition characterized by significantly increased skeletal muscle mass and reduced body fat. This condition results from mutations in the MSTN gene, which encodes myostatin, a protein that normally acts as a negative regulator of muscle growth. When myostatin function is reduced or absent, muscles grow substantially larger than normal. This entry in Orphanet is marked as OBSOLETE, meaning it may have been reclassified or merged with another entry. Affec
How is OBSOLETE: Myostatin-related muscle hypertrophy inherited?
OBSOLETE: Myostatin-related muscle hypertrophy follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does OBSOLETE: Myostatin-related muscle hypertrophy typically begin?
Typical onset of OBSOLETE: Myostatin-related muscle hypertrophy is neonatal. Age of onset can vary across affected individuals.
Frequently asked questions about OBSOLETE: Myostatin-related muscle hypertrophy
Auto-generated from canonical disease facts (Orphanet, OMIM, ClinicalTrials.gov, openFDA, NPPES). Not a substitute for clinical guidance.
What is OBSOLETE: Myostatin-related muscle hypertrophy?
OBSOLETE: Myostatin-related muscle hypertrophy is a rare disease catalogued in international rare-disease ontologies (Orphanet ORPHA:275534). It is typically inherited as autosomal recessive. Age of onset is generally neonatal. For verified primary sources, see the UniteRare OBSOLETE: Myostatin-related muscle hypertrophy page.
How is OBSOLETE: Myostatin-related muscle hypertrophy inherited?
OBSOLETE: Myostatin-related muscle hypertrophy follows autosomal recessive inheritance. Genetic counseling is recommended for affected families to understand recurrence risk in offspring and the likelihood of unaffected siblings being carriers. Variants in the underlying gene(s) may be identified via clinical genetic testing.
Are there FDA-approved treatments for OBSOLETE: Myostatin-related muscle hypertrophy?
Approved treatments for OBSOLETE: Myostatin-related muscle hypertrophy are tracked from openFDA and DailyMed primary sources. Many rare diseases have no specific FDA-approved therapy; for those, supportive care and management of complications form the basis of clinical care. Orphan-drug-designation status is noted where applicable.
Are there clinical trials for OBSOLETE: Myostatin-related muscle hypertrophy?
Active clinical trials for OBSOLETE: Myostatin-related muscle hypertrophy are tracked daily from ClinicalTrials.gov. Trial availability changes frequently; check the UniteRare trial listings for the current count and recruitment status. Sponsors of rare-disease research often welcome inquiries even when a trial is not actively recruiting at a given moment.
How do I find a specialist for OBSOLETE: Myostatin-related muscle hypertrophy?
Verified OBSOLETE: Myostatin-related muscle hypertrophy specialists are identified through ClinicalTrials.gov principal-investigator records, peer-reviewed publication authorship (via PubMed), and the NPPES NPI registry. NORD-designated Centers of Excellence and NIH-affiliated rare-disease clinics are also tracked. UniteRare's specialist directory is updated continuously as new evidence becomes available.
See full OBSOLETE: Myostatin-related muscle hypertrophy page for complete clinical details, sources, and verified-specialist listings.
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