How does salbutamol (albuterol) treat Congenital Myasthenic Syndrome (CMS) type Dok-7?

From the Guidelines

Salbutamol is not recommended for the treatment of Congenital Myasthenic Syndrome (CMS) type Dok-7 based on the provided evidence, as the studies primarily focus on asthma management and do not address the treatment of CMS. The provided evidence 1, 2, 3, 4 discusses the management of asthma, including the use of salbutamol as a bronchodilator, but does not provide information on its use in treating CMS type Dok-7. Key points to consider in the treatment of CMS type Dok-7 include:

• The need for therapies that can enhance neuromuscular transmission and improve muscle strength
• The potential for certain medications, such as acetylcholinesterase inhibitors, to worsen symptoms in CMS type Dok-7
• The importance of monitoring for common side effects and adjusting treatment accordingly However, without specific evidence on the use of salbutamol in CMS type Dok-7, it is not possible to recommend its use for this condition. In clinical practice, the treatment of CMS type Dok-7 would require careful consideration of the available evidence and consultation with specialists in neuromuscular medicine. The primary goal of treatment would be to improve muscle strength and function, while minimizing adverse effects. In the absence of evidence supporting the use of salbutamol for CMS type Dok-7, alternative therapies should be considered.

From the Research

Treatment of Congenital Myasthenic Syndrome (CMS) type Dok-7 with Salbutamol

• Salbutamol is a effective treatment for CMS type Dok-7, as shown in several studies 5, 6, 7, 8.
• The treatment with salbutamol has been reported to improve muscle strength and function in patients with Dok-7 CMS, with significant benefits observed in motor function and daily living activities 6, 7, 8.
• The recommended dose of salbutamol for Dok-7 CMS is 2-4mg three times daily (6-12 mg/day) 6, 7.
• Salbutamol has been shown to be well-tolerated in patients with Dok-7 CMS, with no major side effects reported 6, 7, 8.

Mechanism of Action

• Salbutamol is a β(2)-adrenergic receptor agonist, which has been shown to improve muscle strength and function in patients with Dok-7 CMS 6, 7.
• The exact mechanism of action of salbutamol in Dok-7 CMS is not fully understood, but it is thought to involve the activation of β(2)-adrenergic receptors, which leads to an increase in muscle strength and function 7.

Comparison with Other Treatments

• Salbutamol has been compared to other treatments for Dok-7 CMS, such as ephedrine, and has been shown to be effective and well-tolerated 6, 8.
• Gene therapy, such as AMP-101, is also being developed as a potential treatment for Dok-7 CMS, and has shown promising results in pre-clinical trials 9.