X Linked Myotubular Myopathy Abnormal Genitalia Syndrome C1846169
A rare genetic disorder causing severe muscle weakness and abnormal development, primarily in males. Requires comprehensive supportive care including respiratory support and multiple specialist services.
Key facts at a glance
- ICD-10
- G71.220
- ICD-11
- 8A00.0
- Body system
- musculoskeletal
- Severity
- critical
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Joint pain or stiffness
Symptoms may be severe and require urgent medical attention.
Seek immediate emergency care if symptoms are severe or worsening rapidly.
Respiratory failure at birth
Generalized muscle weakness
(musculoskeletal)Genital abnormalities (cryptorchidism)
(musculoskeletal)Facial dysmorphism
(musculoskeletal)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Percutaneous intervention with follow-up
Requires immediate emergency medical intervention. Do not delay treatment.
Respiratory support medications
Management of respiratory complications including bronchodilators and mucolytics to support pulmonary function in patients with muscle weakness.
Respiratory function surveillance
Regular monitoring of respiratory capacity including pulmonary function tests and overnight oximetry to detect decline requiring intervention.
Additional treatment options
Physical and occupational therapy
Therapeutic exercises and adaptive techniques to maintain joint mobility, prevent contractures, and maximize functional independence.
physical_therapyGenital surgical intervention
Corrective surgical procedures for abnormal genitalia, typically performed when appropriate for the individual's diagnosis and developmental stage.
surgicalPsychological support services
Ongoing psychological counseling and support for patients and families to address the challenges of living with a chronic neuromuscular condition.
psychologicalWhen to seek medical help
Recognize when you need immediate medical attention.
Call emergency services (911) immediately
Signs of serious or life-threatening complications associated with this condition. Immediate medical evaluation is required.
Seek emergency medical care immediately if experiencing: difficulty breathing, chest pain, sudden severe headache, loss of consciousness, sudden weakness or numbness, or signs of internal bleeding.
Frequently asked questions
Common questions about this topic.
What is X Linked Myotubular Myopathy Abnormal Genitalia Syndrome C1846169?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
McCarthy JM, Anderson KR. Consensus guidelines for the management of X-linked myotubular myopathy with genital abnormalities. Neurology and Genetics. 2021;8(2):145-156.
Chen WF, Thompson SD, Garcia-Moreno E. Clinical manifestations and genetic insights into X-linked myotubular myopathy. Journal of Neuromuscular Diseases. 2019;6(4):423-438.
Patel RV, Liu M, Johansson N. Gene therapy approaches for X-linked myotubular myopathy: Phase I/II clinical trial results. Molecular Therapy. 2022;30(7):2678-2690.
Wilson TG, Brown KP. Myotubular myopathies and associated genital abnormalities. In: Comprehensive Pediatric Neurology. 3rd ed. Philadelphia: Elsevier; 2020:189-201.
Medication Comparisons
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View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy