X-linked myotubular myopathy (XLMTM) is characterized by extreme muscle weakness. This often leads to difficulty with walking, breathing, and swallowing.
Most patients with XLMTM suffer significant morbidity. Because of the profound weakness of the muscles that control breathing, patients often require a tracheostomy and ventilator support. Difficulty in swallowing often leads to the need for a gastrostomy tube for nutritional support. A large majority of patients require a wheelchair.
Initial diagnosis is based on clinical observations with or without a muscle biopsy, then confirmation by genetic testing. Please visit the XLMTM disease information page here for more information about diagnosis, management, and therapies in development.
What are the symptoms of XLMTM?
- Profound muscle weakness; babies are often born hypotonic (“floppy”—minimal ability to make antigravity movements)
- Difficulty in breathing often leads to the need for ventilator support and tracheostomy
- Inability to swallow leads to frequent suctioning and may require a gastrostomy tube for nutritional support
- Generally, require ventilatory and nutritional support
- Frequent suctioning
- Delayed motor development and, frequently, wheelchair use