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?
Dr. Amanda L. Witt
Physiatry | Pediatrics
Dr. Amanda L. Witt
Physiatry | Pediatrics

State Of Mississippi - University Of Mississippi Medical Center

2550 Flowood Dr, Suite 200, 
Flowood, MS 
 (151.4 mi)
601-815-2005
Languages Spoken:
English
See accepted insurances
Accepting New Patients
Offers Telehealth

Amanda Witt is a Physiatrist and a Pediatrics provider in Flowood, Mississippi. Dr. Witt and is rated as an Advanced provider by MediFind in the treatment of Tubular Aggregate Myopathy. Her top areas of expertise are Opisthotonos, Muscle Spasms, Paramyotonia Congenita, and Myotonic Dystrophy Type 2. Dr. Witt is currently accepting new patients.

 
 
 
 
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What are the latest Tubular Aggregate Myopathy Clinical Trials?
WiTNNess: An International Natural History Study of Autosomal Recessive TNNT1 Myopathy
WiTNNess: An International Natural History Study of Autosomal Recessive TNNT1 Myopathy
Enrollment Status: Recruiting
Publish Date: February 12, 2025

Summary: WiTNNess is designed to accurately document the natural course and variation of muscle disease caused by pathogenic changes of the TNNT1 gene. The primary aim of the study is to specify meaningful outcome measures for future clinical trials. WiTNNess is open to children and adults worldwide. Participants can choose to include their information once (cross-sectional cohort) or every few months (pro...

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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: February 12, 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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Who are the sources who wrote this article ?

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

What are the Latest Advances for Tubular Aggregate Myopathy?
Comprehensive mutational characterization of the calcium-sensing STIM1 EF-hand reveals residues essential for structure and function.
Comprehensive mutational characterization of the calcium-sensing STIM1 EF-hand reveals residues essential for structure and function.
Journal: bioRxiv : the preprint server for biology
Published: February 03, 2025
Commentary to An Orai1 gain-of-function tubular aggregate myopathy mouse model phenocopies key features of the human disease (Zhao et al., EMBO Journal 2024) and A gain-of-function mutation in the Ca2+ channel ORAI1 causes Stormorken syndrome with tubular aggregates in mice (Pérez-Guàrdia et al., Cells 2024).
Commentary to An Orai1 gain-of-function tubular aggregate myopathy mouse model phenocopies key features of the human disease (Zhao et al., EMBO Journal 2024) and A gain-of-function mutation in the Ca2+ channel ORAI1 causes Stormorken syndrome with tubular aggregates in mice (Pérez-Guàrdia et al., Cells 2024).
Journal: Cell calcium
Published: January 14, 2025
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Structural variation in nebulin and its implications on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions.
Structural variation in nebulin and its implications on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions.
Journal: medRxiv : the preprint server for health sciences
Published: January 13, 2025
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