Tubular Aggregate Myopathy Overview

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Learn About Tubular Aggregate Myopathy

What is the definition of Tubular Aggregate Myopathy?
Tubular aggregate myopathy is a disorder that affects the skeletal muscles. The leg muscles are most often affected, but the arm muscles may also be involved. Symptoms include muscle pain, cramping, weakness or stiffness; and exercise-induced muscle fatigue. Affected individuals may have an unusual walking style (gait) or difficulty running, climbing stairs, or getting up from a squatting position. Some individuals develop contractures. This condition may be caused by genetic changes in the STIM1 or ORAI1 genes. It is usually inherited in an autosomal dominant manner, but autosomal recessive inheritance has also been reported.
What are the alternative names for Tubular Aggregate Myopathy?
  • Tubular aggregate myopathy
  • Myopathy, tubular aggregate
Who are the top Tubular Aggregate Myopathy Local Doctors?
Elite in Tubular Aggregate Myopathy
Dr. James J. Dowling
Neurology
Elite in Tubular Aggregate Myopathy
Dr. James J. Dowling
Neurology

Penn Neuroscience Center - Neurology

3400 Civic Center Boulevard, South Pavilion, 2nd Floor, 
Philadelphia, PA 
800-789-7366
Languages Spoken:
English
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James Dowling is a Neurologist in Philadelphia, Pennsylvania. Dr. Dowling is rated as an Elite provider by MediFind in the treatment of Tubular Aggregate Myopathy. His top areas of expertise are Tubular Aggregate Myopathy, Congenital Fiber-Type Disproportion, X-Linked Myotubular Myopathy, and Horizontal Gaze Palsy with Progressive Scoliosis. Dr. Dowling is currently accepting new patients.

Elite in Tubular Aggregate Myopathy
Dr. Carsten G. Bonnemann
Pediatric Neurology | Pediatrics
Elite in Tubular Aggregate Myopathy
Dr. Carsten G. Bonnemann
Pediatric Neurology | Pediatrics
3401 Civic Center Blvd, Children's Hospital Of Philadelphia - Neurology, 
Philadelphia, PA 
215-590-1719
Languages Spoken:
English

Carsten Bonnemann is a Pediatric Neurologist and a Pediatrics provider in Philadelphia, Pennsylvania. Dr. Bonnemann is rated as an Elite provider by MediFind in the treatment of Tubular Aggregate Myopathy. His top areas of expertise are Tubular Aggregate Myopathy, Congenital Fiber-Type Disproportion, X-Linked Myotubular Myopathy, Hypotonia, and Gastrostomy.

 
 
 
 
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Elite in Tubular Aggregate Myopathy
Johann Bohm
Elite in Tubular Aggregate Myopathy
Johann Bohm
Strasbourg, FR 

Johann Bohm practices in Strasbourg, France. Bohm is rated as an Elite expert by MediFind in the treatment of Tubular Aggregate Myopathy. Their top areas of expertise are Tubular Aggregate Myopathy, X-Linked Myotubular Myopathy, Congenital Fiber-Type Disproportion, and Stormorken Syndrome.

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What are the latest Tubular Aggregate Myopathy Clinical Trials?
A Non-interventional, Epidemiologic Study of XLMTM and Clinical Expression in the Liver
A Non-interventional, Epidemiologic Study of XLMTM and Clinical Expression in the Liver
Enrollment Status: Recruiting
Publish Date: October 14, 2025
Intervention Type: Other

Summary: XLMTM (X-linked myotubular myopathy) is a serious genetic muscle condition. It is caused by changes in the MTM1 gene which stops or slows down normal muscle development, causing severe muscle weakness. There is currently no cure for XLMTM. Ongoing care is needed to manage symptoms and prevent further medical problems from this condition. Recent research shows that individuals with XLMTM often have...

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A Phase 1/2, Multicenter, Open-label, Dose Escalation and Expansion Clinical Study to Evaluate the Safety, Tolerability and Preliminary Efficacy of ASP2957 in Male Participants With Invasive Ventilator-dependent X-linked Myotubular Myopathy
A Phase 1/2, Multicenter, Open-label, Dose Escalation and Expansion Clinical Study to Evaluate the Safety, Tolerability and Preliminary Efficacy of ASP2957 in Male Participants With Invasive Ventilator-dependent X-linked Myotubular Myopathy
Enrollment Status: Recruiting
Publish Date: October 08, 2025
Intervention Type: Drug, Genetic
Study Phase: Phase 1/Phase 2

Summary: X-linked myotubular myopathy (XLMTM) is a rare and serious condition present at birth where the muscles do not work properly. There are currently no approved therapies for XLMTM. The protein myotubularin is needed for muscle development, movement and breathing. A gene called MTM1 tells the body to make myotubularin. XLMTM is caused by changes, or mutations, in the MTM1 gene. Changes in the MTM1 ge...

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center