Living with Sarcotubular myopathy
A mild type of limb-girdle muscular dystrophy with slowly worsening weakness in the hip and shoulder muscles.
Understanding Sarcotubular myopathy
It causes slowly progressive weakness and wasting of the muscles around the hips and shoulders. It usually starts in the second or third decade of life, but onset ranges from childhood to adulthood. It can include thick calves, tight joints, winged shoulder blades, cramps, and facial or breathing muscle involvement.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Weakness in upper leg and hip muscles
- Waddling walk
- Muscle disease (myopathy)
- Tall stature
- Mask-like face
- Walking difficulty
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.
- 3Consider genetic testing
Changes in TRIM32 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Muscular Dystrophy Association and The Speak Foundation 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, The Speak Foundation
- 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 and other patient organizations
- 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
It is caused by changes in the TRIM32 gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: autosomal recessive limb-girdle muscular dystrophy caused by mutation in trim32; autosomal recessive limb-girdle muscular dystrophy type 2h; hutterite type of muscular dystrophy; lgmd due to trim32 deficiency; lgmd type 2h; lgmd2h
Patient organizations
- Muscular Dystrophy AssociationSarcotubular myopathy · United States
- The Speak FoundationSarcotubular myopathy · United States
You are more than your diagnosis
Perspectives from people navigating life with Sarcotubular myopathy.
Explore research for Sarcotubular myopathy
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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