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?
Margherita Milone
Elite in Tubular Aggregate Myopathy
Dr. Margherita Milone
Neurology
Elite in Tubular Aggregate Myopathy
Dr. Margherita Milone
Neurology

Mayo Clinic

200 1st St Sw, 
Rochester, MN 
507-284-2511
Languages Spoken:
English
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Margherita Milone is a Neurologist in Rochester, Minnesota. Dr. Milone and is rated as an Elite provider by MediFind in the treatment of Tubular Aggregate Myopathy. Her top areas of expertise are Nemaline Myopathy, Progressive External Ophthalmoplegia, Necrotizing Myopathy (NM), and Tubular Aggregate Myopathy.

Elite in Tubular Aggregate Myopathy
Dr. James J. Dowling
Pediatric Neurology | Psychiatry
Elite in Tubular Aggregate Myopathy
Dr. James J. Dowling
Pediatric Neurology | Psychiatry
3400 Spruce St, 
Phila, PA 
Languages Spoken:
English

James Dowling is a Pediatric Neurologist and a Psychiatrist in Phila, Pennsylvania. Dr. Dowling and 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 Centronuclear Myopathy.

 
 
 
 
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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 and 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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What are the latest Tubular Aggregate Myopathy Clinical Trials?
Multispectral Optoacoustic Tomography for Advanced Imaging of Centronuclear Myopathy
Multispectral Optoacoustic Tomography for Advanced Imaging of Centronuclear Myopathy
Enrollment Status: Recruiting
Publish Date: June 15, 2025
Intervention Type: Diagnostic test

Summary: Twenty patients with centronuclear myopathy and twenty age- and sex-matched, muscle-healthy controls will undergo diagnostic examination. Study participants will undergo physical examination, clinical and functional testing, and multispectral optoacoustic tomography (MSOT) scanning at predefined muscle sites (paraspinal muscles, trapezius muscle, deltoid muscle, forearm flexors, quadriceps muscle,...

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Gait Analysis Parameter, Stair Climbing and Upper Limb Evaluation in Patients With Muscular Pathology and in Control Subjects: The ActiLiège Next Study
Gait Analysis Parameter, Stair Climbing and Upper Limb Evaluation in Patients With Muscular Pathology and in Control Subjects: The ActiLiège Next Study
Enrollment Status: Recruiting
Publish Date: May 20, 2025
Intervention Type: Device
Study Phase: Not Applicable

Summary: The objective of the ActiLiège Next study is to collect longitudinal data from patients and control subjects using a wearable magneto-inertial device. By collecting natural history data in various neuromuscular disorders (Duchenne Muscular Dystrophy, Fascioscapulohumeral Muscular Dystrophy, Myotonic Dystrophy 1, Charcot-Marie-Tooth, Centronuclear Myopathy, Congenital Muscular Dystrophy), we aim to...

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