Living with Severe X-linked myotubular myopathy
A genetic muscle condition, mostly in males, that causes weak muscles and breathing and feeding problems from birth.
Understanding Severe X-linked myotubular myopathy
Muscle weakness and low muscle tone are usually seen at birth. They slow skills such as sitting, standing and walking, and can cause feeding trouble. Many people need a machine to help them breathe (mechanical ventilation), some only during sleep and others all the time. Other features can include weak eye and face muscles, scoliosis, joint stiffness, seizures and liver disease.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Weak muscles from birth
- Low muscle tone (hypotonia)
- Breathing difficulties
- Feeding trouble and poor suck
- Weak swallowing muscles
- Frequent chest infections
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, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in MTM1 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
Joshua Frase Foundation and Muscular Dystrophy Association may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Joshua Frase Foundation, 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 Joshua Frase Foundation 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
GARD lists changes in the MTM1 gene. The condition is X-linked, meaning the gene is on the X chromosome.
Also known as: centronuclear myopathy, x-linked; cnmx; mtm; myotubular myopathy 1; myotubular myopathy, x-linked; myotubular myopathy, x-linked, x-linked recessive
Patient organizations
- Joshua Frase FoundationSevere X-linked myotubular myopathy · United States
- Muscular Dystrophy AssociationSevere X-linked myotubular myopathy · United States
You are more than your diagnosis
Perspectives from people navigating life with Severe X-linked myotubular myopathy.
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