Salbutamol (albuterol) — a β2 agonist No cure for<unk>  is known, and an ongoing medical need has been recognized by regulatory authorities. Gene therapy has shown some success. Treatment is generally aimed at controlling the onset of symptoms to maximize the quality of life which can be measured using specific questionnaires, and include: * Corticosteroids such as prednisolone and deflazacort lead to short-term improvements in muscle strength and function up to 2 years. Corticosteroids have also been reported to help prolong walking, though the evidence for this is not robust. * Randomised control trials have shown that β2 agonists increase muscle strength, but do not modify disease progression. Follow-up time for most RCTs on β2 agonists is only around 12 months, hence results cannot be extrapolated beyond that time frame. * Mild, nonjarring physical activity such as swimming is encouraged. Inactivity (such as bed rest) can worsen the muscle disease. * Physical therapy is helpful to maintain muscle strength, flexibility, and function. * Orthopedic appliances (such as braces and wheelchairs) may improve mobility and the ability for self-care. Form-fitting removable leg braces that hold the ankle in place during sleep can defer the onset of contractures. * Appropriate respiratory support as the disease progresses is important. * Cardiac problems may require a pacemaker. The medication eteplirsen, a Morpholino antisense oligo, has been approved in the United States for the treatment of mutations amenable to dystrophin exon 51 skipping. The US approval has been controversial as eteplirsen failed to establish a clinical benefit; it has been refused approval by the European Medicines Agency. The medication ataluren (Translarna) is approved use in the European Union. The antisense oligonucleotide golodirsen (Vyondys 53) was approved for medical use in the United States in 2019, for the treatment of cases that can benefit from skipping exon 53 of the dystrophin transcript. The Morpholino antisense oligonucleotide viltolarsen (Viltepso) was approved for medical use in the United States in August 2020, for the treatment of<unk>  <unk>  in people who have a confirmed mutation of the<unk>  gene that is amenable to exon 53 skipping. It is the second approved targeted treatment for people with this type of mutation in the United States. Approximately 8% of people with<unk>  have a mutation that is amenable to exon 53 skipping. Casimersen was approved for medical use in the United States in February 2021, and it is the first FDA-approved targeted treatment for people who have a confirmed mutation of the<unk>  gene that is amenable to exon 45 skipping. Comprehensive multidisciplinary care guidelines for<unk>  have been developed by the Centers for Disease Control and Prevention, and were published in two parts in The Lancet Neurology in 2010. An update was published in 2018. Physical therapy Physical therapists are concerned with enabling patients to reach their maximum physical potential. Their aim is to: * minimize the development of contractures and deformity by developing a programme of stretches and exercises where appropriate * anticipate and minimize other secondary complications of a physical nature by recommending bracing and durable medical equipment * monitor respiratory function and advise on techniques to assist with breathing exercises and methods of clearing secretions Respiration assistance Tracheotomy 1 – Vocal folds 2 – Thyroid cartilage 3 – Cricoid cartilage 4 – Tracheal rings 5 – Balloon cuff Modern "volume ventilators/respirators", which deliver an adjustable volume (amount) of air to the person with each breath, are valuable in the treatment of people with muscular dystrophy-related respiratory problems. The ventilator may require an invasive endotracheal or tracheotomy tube through which air is directly delivered, but for some people, noninvasive delivery through a face mask or mouthpiece is sufficient. Positive airway pressure machines, particularly bilevel ones, are sometimes used in this latter way. The respiratory equipment may easily fit on a ventilator tray on the bottom or back of a power wheelchair with an external battery for portability. Ventilator treatment may start in the mid- to late teens when the respiratory muscles can begin to collapse. If the vital capacity has dropped below 40% of normal, a volume ventilator/respirator may be used during sleeping hours, a time when the person is most likely to be underventilating (hypoventilating). Hypoventilation during sleep is determined by a thorough history of sleep disorder with an oximetry study and a capillary blood gas (see pulmonary function testing). A cough assist device can help with excess mucus in lungs by hyperinflation of the lungs with positive air pressure, then negative pressure to get the mucus up. If the vital capacity continues to decline to less than 30 percent of normal, a volume ventilator/respirator may also be needed during the day for more assistance. The person gradually will increase the amount of time using the ventilator/respirator during the day as needed. However, there are also people with the disease in their 20s who have no need for a ventilator.
Duchenne muscular dystrophy
Limb–girdle muscular dystrophy
Becker muscular dystrophy
Brugada syndrome
Spinal muscular atrophy
Fukuyama congenital muscular dystrophy
Facioscapulohumeral muscular dystrophy
Jokela type spinal muscular atrophy