Living with Myopathy with hexagonally cross-linked tubular arrays
A rare muscle condition present from birth, with mild, slowly worsening weakness and muscle pain after exercise.
Understanding Myopathy with hexagonally cross-linked tubular arrays
It mainly affects muscles near the center of the body. People have trouble with exercise and muscle pain after exercise, without serious muscle breakdown. A muscle biopsy shows highly organized, hexagon-shaped tube patterns. Other features may include muscle shrinking, weakness in the trunk and hip and shoulder muscles, and tight joints.
Signs & symptoms
GARD doesn't list specific symptoms, but the summary describes these features:
- Trouble with exercise (exercise intolerance)
- Muscle pain after exercise
- Muscle weakness near the center of the body
- Muscle shrinking (atrophy)
- Mild drooping of the eyelids
- Tight joints (contractures)
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.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 rare disease patient organizations for support
- 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 doesn't list a specific gene or how it is inherited.
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Myopathy with hexagonally cross-linked tubular arrays.
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