What is the surgical management of dysphagia in myotonic dystrophy (Myotonic Dystrophy, MD)?

From the Guidelines

Surgical management of dysphagia in myotonic dystrophy typically involves cricopharyngeal myotomy as the primary intervention when conservative measures fail, with consideration of upper oesophageal sphincter dilatation as an alternative treatment option 1. This procedure involves surgically dividing the cricopharyngeal muscle to reduce upper esophageal sphincter resistance and improve bolus passage from the pharynx to the esophagus. The procedure can be performed via an open cervical approach or endoscopically, with the latter being less invasive. For patients with severe aspiration risk, a feeding tube placement (PEG or RIG) may be necessary either as a temporary or permanent solution. Prior to surgery, comprehensive evaluation including videofluoroscopic swallowing studies and manometry is essential to confirm that the dysphagia is primarily due to cricopharyngeal dysfunction rather than pharyngeal weakness. Some key points to consider in the management of dysphagia in myotonic dystrophy include:

• The importance of a multidisciplinary approach, involving neurologists, surgeons, anesthesiologists, and speech pathologists, to optimize patient outcomes 1
• The need for careful consideration of the risks and benefits of surgical intervention, given the increased anesthetic risks associated with myotonic dystrophy 1
• The potential benefits of alternative treatment options, such as upper oesophageal sphincter dilatation, in certain cases 1 Post-operative swallowing therapy is crucial for optimal outcomes. Surgery should be considered only after failure of conservative approaches including dietary modifications, swallowing techniques, and speech therapy. The decision for surgical intervention must carefully weigh benefits against risks, as myotonic dystrophy patients have increased anesthetic risks due to cardiac conduction abnormalities, respiratory weakness, and potential for malignant hyperthermia-like reactions. Close multidisciplinary management involving neurologists, surgeons, anesthesiologists, and speech pathologists is necessary for optimal outcomes. It is also important to note that exercises and maneuvers, such as the Shaker head lift and the chin-down technique, may be beneficial in improving swallowing function in patients with dysphagia 1. However, the most recent and highest quality study, which is the 2018 UK guidelines on oesophageal dilatation in clinical practice, recommends considering upper oesophageal sphincter dilatation in the treatment of dysphagia with disordered upper oesophageal sphincter opening 1.

From the Research

Surgical Management of Dysphagia in Myotonic Dystrophy

• Dysphagia is a significant symptom in myotonic dystrophy, potentially leading to weight loss, aspiration pneumonias, or sudden death 2.
• The condition is characterized by muscle weakness, ptosis, and cognitive and psychiatric manifestations, making dysphagia management challenging 2.
• Studies have investigated the effectiveness of various surgical procedures in managing dysphagia, including cricopharyngeal myotomy, dilatation, and botulinum toxin injection 3, 4.

Cricopharyngeal Myotomy

• Cricopharyngeal myotomy has been shown to be an effective treatment for dysphagia in patients with myotonic dystrophy, particularly when cricopharyngeal dysfunction is the primary issue 3.
• The procedure involves removing the obstruction caused by the cricopharyngeal muscle, improving swallowing function in patients with partially preserved pharyngeal peristalsis 3.
• A systematic review comparing outcomes of myotomy, dilatation, and botulinum toxin injection found that myotomy had a higher success rate than botulinum toxin injections, with endoscopic myotomy having a higher success rate than open myotomy 4.

Other Surgical Options

• Dilatation and botulinum toxin injection are also used to manage cricopharyngeal dysfunction, with reported success rates ranging from 43% to 100% for botulinum toxin injections and 58% to 100% for dilatation 4.
• The choice of surgical procedure depends on the underlying cause of dysphagia and the patient's overall condition, highlighting the need for individualized assessment and treatment plans 5.

Early Detection and Management

• Oropharyngeal dysphagia can occur in early stages of myotonic dystrophy, emphasizing the importance of timely diagnosis and management to prevent medical complications 6.
• Fiberoptic endoscopic evaluation of swallowing (FEES) and clinical scores can be used to assess swallowing function and detect dysphagia in presymptomatic carriers and patients with myotonic dystrophy 6.