X-linked myotubular myopathy
ICD-10 G71.220 is a billable code used to indicate a diagnosis of x-linked myotubular myopathy.
X-linked myotubular myopathy (XLMTM) is a rare genetic disorder characterized by muscle weakness and hypotonia due to mutations in the MTM1 gene located on the X chromosome. This condition primarily affects males, as they have only one X chromosome, while females may be carriers and exhibit milder symptoms. Clinically, XLMTM presents in infancy with severe muscle weakness, leading to difficulties in motor skills such as sitting, standing, and walking. Patients may also experience respiratory complications due to weakness of the respiratory muscles. The disease is classified under congenital myopathies and is associated with a distinct histopathological finding of myotubular fibers on muscle biopsy. Diagnosis is typically confirmed through genetic testing, which identifies mutations in the MTM1 gene. Management focuses on supportive care, including physical therapy, respiratory support, and nutritional management, as there is currently no cure for the condition. The prognosis varies, with some individuals achieving improved motor function while others may have significant disability.
Detailed neurological examination findings, genetic testing results, and history of muscle weakness.
Diagnosis confirmation through genetic testing, management of respiratory support, and coordination of multidisciplinary care.
Neurologists should ensure that all clinical findings are documented to support the diagnosis and treatment plan.
Growth and developmental milestones, family history of genetic disorders, and physical examination findings.
Evaluation of infants with hypotonia and muscle weakness, referral for genetic counseling.
Pediatricians should document the onset of symptoms and any interventions provided to support the child's development.
Used when confirming a diagnosis of XLMTM.
Documentation of clinical suspicion and family history.
Genetic counselors and neurologists should collaborate on documentation.
X-linked myotubular myopathy is primarily caused by mutations in the MTM1 gene, which is responsible for muscle fiber development.
