A rare congenital myopathy characterized ultrastructurally by the presence of tubular aggregates in the subsarcolemmal region of the muscle fiber. It most commonly presents with slowly progressive proximal muscle weakness predominantly of the lower limbs periodic paralysis post-exertion muscle cramps and muscular pain. Ocular anomalies like ophthalmoplegia or pupillary abnormalities may be associated. The intensity of the symptoms is variable cases with normal muscle strength but myalgia or fatigue as well as clinically asymptomatic cases have been described.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2026
Newly diagnosed with
Tubular aggregate myopathy?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
Association Aux Pas du Coeur – Côte d’ivoire
Our organization wants to raise awareness and recognition of rare diseases in Ivory Coast. Our mission is to: Raise awareness and campaign to help with the diagnosis and free therapeutic care of patients. Request and/or contribute to actions relating to the training of the medical profession to be able to make a final diagnosis and ensure continuous monitoring of patients easily.
Fundacion Powerchair Football Argentina
To develop Powerchair Football in Argentina in order to integrate people with motor disabilities (SMA, Duchenne muscular dystrophy, Achondroplasia, Rare Diseases) into sports practice and to promote their social inclusion, based on empowerment, independence, and the creation of new bonds and friendships.
Neuromuscular Disease Foundation
The Neuromuscular Disease Foundation's (NDF) mission is to enhance the quality of the lives of people living with GNE Myopathy (also known as HIBM) through advocacy, education, outreach, and funding clinical research focused on treatments and a cure.
Team Titin
Team Titin, Inc. is a 501(c)(3) nonprofit with the mission to serve those living with, caring for, or researching titin (TTN) related muscle and heart disorders. To achieve this mission, we focus on four key pillars: Connection, Advocacy, Care, and Research.
Don't see your organization here. Let us know here.
Clinical Trials
For a list of clinical trials in this disease area, please click here.