Some research suggests that this theory may be acceptable for infant-onset myotubular myopathy (mutations at the MTM1 gene on the X chromosome) but may not be acceptable for the autosomal forms of centronuclear myopathy, while other research suggests that the growth arrest mechanism may be responsible for all forms of MTM and CNM. Regardless of whether the myopathy is caused by arrest at the "myotubular" stage, for historical reasons the name myotubular myopathy persists and is widely accepted.As a reference to the term myotubular myopathy (MTM), when a genetic abnormality on the X chromosome was determined to be involved in a substantial percentage of individuals with the myotubular/centronuclear appearance on muscle biopsy, researchers named the gene segment MTM1. Similarly, the protein typically produced by that gene is called "myotubularin". Advocacy
There are several global advocacy groups working closely to educate newly affected families on care guidelines. The Joshua Frase Foundation is a comprehensive resource for care guidelines for Centronuclear myopathies. In the United States, children with congenital myopathies often receive therapy services through Early Intervention Programs (EIP, providing services from birth to 3 years old) administered by the state of residence. After the child is 3 years old, Special Education services are provided under the federal Individuals with Disabilities Education Act (IDEA, with myopathies being eligible when classified under conditions causing muscular weakness).
It is thought that the lesions may develop in relation to estrogen levels or trauma/operations.A 3 APC mutation is the most significant risk factor for intra-abdominal desmoid development amongst FAP patients. FAP patients presenting with an abdominal wall desmoid pre-operatively are at an increased risk of developing an intra-abdominal desmoid post-operatively.Desmoid tumours of the breast are rare. Although benign, they can mimic breast cancer
on physical examination, mammography and breast ultrasound and can also be locally invasive. Even
though they occur sporadically, they can also be seen as a part of Gardners syndrome. A high index of suspicion and a thorough triple examination protocol is necessary to detect rare lesions like a desmoid tumour which can masquerade as breast carcinoma. Desmoid tumour of the breast may present a difficulty in the diagnosis especially where imaging studies are not conclusive and suggest a more ominous diagnosis. Treatment
Treatment may consist of watchful waiting, complete surgical removal, radiation therapy, antiestrogens (e.g. Tamoxifen), NSAIDs, chemotherapy, or ablation (cold, heat, ultrasound). Treatment with oral tyrosine kinase inhibitor drugs (e.g. imatinib, sorafenib, pazopanib) show promising success rates.Patients with desmoid tumors should be evaluated by a multi-disciplinary team of surgeons, medical oncologists, radiation oncologists, and geneticists. There is no cure for desmoid tumors; when possible, patients are encouraged to enlist in clinical trials.A biopsy is always indicated as the definitive method to determine nature of the tumour. Management of these lesions is complex, the main problem being the high rates of recurrence in FAP associated disease.