Living with X-linked myotubular myopathy-abnormal genitalia syndrome
A rare condition from a missing piece of the X chromosome, with a severe muscle disease from birth and differences in male genitals.
Understanding X-linked myotubular myopathy-abnormal genitalia syndrome
It combines X-linked myotubular myopathy with a 46,XY disorder of sex development. People have a severe congenital myopathy (a muscle disease present from birth) and differences in male genitals. Signs begin during pregnancy or in the newborn period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low muscle tone
- Breathing difficulty
- Hypospadias
- Small penis (micropenis)
- Undescended testes
- Extra fluid in the womb (polyhydramnios)
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, genetic specialists, hormone specialists and urinary and male reproductive system 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); Hormone specialists (endocrinologists); Urinary and male reproductive system specialists (urologists)
- 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 Chromosome Disorder Outreach
- 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 it is caused by a partial deletion of the long arm of the X chromosome.
Also known as: myotubular myopathy with abnormal genital development; x-linked myotubular myopathy, abnormal genitalia syndrome; xq28 contiguous gene deletion syndrome
Patient organizations
- Chromosome Disorder OutreachChromosome disorders · United States
Broader rare-disease groups
- 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 X-linked myotubular myopathy-abnormal genitalia syndrome.
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