Living with Myopathy with tubular aggregates
An inherited muscle condition with pain, cramping, or weakness that starts in childhood and slowly gets worse.
Understanding Myopathy with tubular aggregates
It causes muscle pain, cramping, or weakness that starts in childhood or later and worsens over time. The leg muscles are most often affected, but the arms can be too. People may find it hard to run, climb stairs, or stand up from a squat. Some develop tight joints. In muscle cells, proteins build up in clumps of tube-like shapes called tubular aggregates.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Weakness that increases with activity
- Weakness in the upper arm and thigh muscles
- Muscle aches
- Muscle spasms
- Trouble running or climbing stairs
- Tight joints (contractures) in some people
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Muscular Dystrophy Association may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Muscular Dystrophy Association
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Muscular Dystrophy Association
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in genes cause this condition. It is autosomal dominant, which means one changed copy of a gene can be enough to cause it.
Also known as: myopathy, tubular aggregate, type 1; tam; tubular aggregate myopathy
Patient organizations
- Muscular Dystrophy AssociationMyopathy with tubular aggregates · United States
You are more than your diagnosis
Perspectives from people navigating life with Myopathy with tubular aggregates.
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