Treatment algorithm

Please note that formulations/routes and doses may differ between drug names and brands, drug formularies, or locations. Treatment recommendations are specific to patient groups: see disclaimer

ACUTE

DMD: ambulatory stage

1st line – corticosteroid

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ACUTE
|
DMD: ambulatory stage
1st line – 

corticosteroid

All patients with DMD should be offered a corticosteroid. Benefits of long-term corticosteroid therapy include: delaying loss of ambulation; preservation of respiratory function (delaying the need for mechanical ventilation); avoiding or delaying scoliosis surgery; delaying the onset of cardiomyopathy; preservation of upper limb function; and increased survival.[10][43][44][45]​​​​

It is recommended that corticosteroid therapy is started in young children, before significant physical decline occurs.[10][46]

Prednisolone and deflazacort are most often used.[10][43][44]​​ Deflazacort is approved by the US Food and Drug Administration (FDA) for the treatment of DMD in patients aged 2 years and older. One review suggested that patients taking deflazacort experience similar or slower rates of functional decline compared with those taking prednisolone.[47]

There is uncertainty about the optimal corticosteroid dosing regimen for patients with DMD. Some evidence suggests that a weekend-only prednisolone regimen is as effective as daily prednisolone, with fewer adverse effects.[10][43][44]​​ Other dosing regimens for prednisolone and deflazacort (e.g., every other day; intermittent) have been studied.[46] One randomised controlled trial reported that daily prednisolone or daily deflazacort resulted in significantly better outcomes than intermittent (10 days on/10 days off) prednisolone after 3 years' follow-up.[48]

Adverse effects of corticosteroids include truncal obesity and weight gain, osteoporosis and fractures, growth failure with short stature, delayed puberty, and cataracts.[10][43][44]​​ Prednisolone may be associated with greater weight gain than deflazacort, whereas fracture rate, growth failure, and cataract may be worse with deflazacort.[43][47]​ Patients and families should be educated about these adverse effects and interventions to address them.

Before starting corticosteroid therapy, guidance for weight management should be provided. Supplements, especially vitamin D and calcium, should be added early in the course.[10][31]

Endocrinologist consultation should not be necessary in most cases.

Primary options

prednisolone: daily dose: 0.75 mg/kg orally once daily or on alternate days, maximum 30-40 mg/day; weekend-only dose: 5 mg/kg orally once daily on each day of the weekend only

More

OR

deflazacort: 0.9 mg/kg orally once daily

Plus – physiotherapy + exercise

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ACUTE
|
DMD: ambulatory stage
Plus – 

physiotherapy + exercise

Treatment recommended for ALL patients in selected patient group

To minimise joint contractures, a home stretching programme focusing on the ankles, knees, and hips should be started, under the guidance of a physiotherapist.[29]​ Moulded ankle-foot orthoses may be used for stretching at night.[29]

Regular sub-maximal aerobic activity or exercise is beneficial. Recommended exercise for people with DMD includes swimming and cycling (with assistance as needed). High-resistance exercise or strength training should be avoided, because of the risk of muscle damage and metabolic abnormalities. Exercise should be guided and monitored by a physiotherapist.[10]

One Cochrane review concluded that evidence about the benefits of strength training and aerobic exercise interventions for improving muscle and cardiorespiratory function in DMD remains uncertain.[50]

For patients with facioscapulohumeral muscular dystrophy, aerobic exercise training may increase aerobic capacity.​[18][50]​​ Muscular exercise was associated with modest improvements in endurance during walking in patients with facioscapulohumeral and myotonic dystrophy in one meta-analysis, but did not improve muscle strength.[51]

Plus – psychosocial and neuropalliative care

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ACUTE
|
DMD: ambulatory stage
Plus – 

psychosocial and neuropalliative care

Treatment recommended for ALL patients in selected patient group

Multidisciplinary care is key, focusing on prolonging function and maintaining a good quality of life for as long as possible. Care coordination (including with primary care providers) is vital.[10][29][30]

Comprehensive, lifelong psychosocial care is essential for patients with DMD and other muscular dystrophies. It should address social, emotional, and cognitive development, quality of life, and participation. Support for families (parents and siblings) and other carers should also be provided.[30]​​​[31][41]

People with DMD and other muscular dystrophies have higher rates of intellectual disability, autism spectrum disorder, ADHD, depression, and anxiety than the general population, and all patients should be assessed for these conditions. Cognitive and behavioural interventions and medication should be offered as appropriate.[30][31] 

If there are concerns about a child's developmental progress, referral for comprehensive neuropsychological evaluation is required, for assessment of cognitive development, academic skills, social functioning, emotional adjustment, and behavioural regulation. Interventions should be offered as needed, with a formal education plan that is re-assessed regularly to reflect the child's changing needs and progress.[30] 

For the younger child, support for the patient and family focuses on: encouraging goal-oriented activities; discouraging over-protection of the child; addressing possible sibling resentment; facilitating adherence by introducing and planning for future therapeutic options; and setting expectations that patients and their families will actively participate in decisions about their care and daily activities. Additional support may be needed during significant life changes, such as starting or changing school.[30] 

Early neuropalliative care consultation is recommended. Patients should be supported using the principles of palliative care and, in particular, the use of a holistic approach to support patients and their families throughout the illness course. Key components of palliative care include informed goals-of-care discussions, advance directive planning, symptom management, and end-of-life support.[22][30][31][75]​​​[76]

Advance directives and wishes for end-of-life care should be discussed with the patient and family/carers as early as possible, long before hospice care is needed, and should be an ongoing conversation.[30][75]

Consider – respiratory management

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ACUTE
|
DMD: ambulatory stage
Consider – 

respiratory management

Additional treatment recommended for SOME patients in selected patient group

It is rare, but not unheard of, for patients who are ambulatory to develop respiratory failure. Forced vital capacity (FVC) should be measured at least annually in all patients with DMD.[29][40]​​

Soft-tissue contractures of the chest wall and lungs result in diminished lung expansion and, in turn, diminished cough flows, and higher risk of pneumonia and respiratory failure.[29] 

Lung volume recruitment ('air stacking') is indicated when FVC is 60% predicted or less. A self-inflating manual ventilation bag or a mechanical insufflation-exsufflation device is used to provide deep lung inflation beyond the patient's inspiratory capacity once or twice daily.[29][40]

Manual and mechanically assisted cough is recommended when FVC is less than 50% predicted, peak cough flow is less than 270 L/minute, or maximum expiratory pressure is less than 60 cm H₂O.[29]​​[31][40]

Consider – surgery for musculotendinous contractures

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ACUTE
|
DMD: ambulatory stage
Consider – 

surgery for musculotendinous contractures

Additional treatment recommended for SOME patients in selected patient group

Surgery is recommended less frequently than it was in the past for treating contractures in patients with DMD. If a patient has substantial ankle contracture with good quadriceps and hip extensor strength, surgery on the foot and Achilles tendon is recommended to improve gait in carefully selected cases. Surgical interventions related to the hips and knees are not recommended.[29]

Surgical interventions may be more effective for prolonging brace-free ambulation for patients with milder muscular dystrophies, such as BMD and Emery-Dreifuss muscular dystrophy.

Plus – cardioprotective drugs

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ACUTE
|
DMD: ambulatory stage
|
with cardiac symptoms, or by age 10 years without cardiac symptoms
Plus – 

cardioprotective drugs

Treatment recommended for ALL patients in selected patient group

Evidence favours the early treatment of patients with DMD and other dystrophinopathies, but whether such treatment should begin before onset of cardiac symptoms (e.g., reduced left ventricular ejection fraction [LVEF]) or evidence of abnormality on imaging is debated.​[29][33][34][35]​​​​​ One study reported that prophylactic ACE inhibitor treatment was associated with a significantly higher overall survival and lower rates of hospitalisation for heart failure.[36]​ Starting patients with DMD on an ACE inhibitor or angiotensin-II receptor antagonist by the age of 10 years has been recommended.[29]​​[31][35][37]​​​

Pharmacological therapy should always be started (if it has not been already) when a patient shows heart failure symptoms or signs of abnormalities on imaging. Typical treatment comprises an ACE inhibitor or an angiotensin-II receptor antagonist plus a beta-blocker.[29]​​[31][35][37]​ 

There is some evidence that adjunctive eplerenone (a mineralocorticoid receptor antagonist) may provide additional benefit in patients with early cardiomyopathy.​[29][34]​​[37][38][39]​​​​

DMD: early non-ambulatory stage

1st line – continue corticosteroid + physiotherapy + exercise

Back
ACUTE
|
DMD: early non-ambulatory stage
1st line – 

continue corticosteroid + physiotherapy + exercise

Corticosteroid therapy, physiotherapy, and suitable exercise should continue after loss of ambulation.[10][29]​​

Corticosteroid treatment is usually with prednisolone or deflazacort. There is uncertainty about the optimal dosing regimens. A weekend-only prednisolone regimen may be as effective as daily prednisolone, with fewer adverse effects.[10][43][44]​​​

A home stretching programme focusing on the ankles, knees, and hips should be continued, under the guidance of a physiotherapist.[29]

Recommended exercise for people with DMD includes swimming and cycling (with assistance as needed). High-resistance exercise or strength training should be avoided, because of the risk of muscle damage and metabolic abnormalities.

Exercise should be guided and monitored by a physiotherapist.[10]

Primary options

prednisolone: daily dose: 0.75 mg/kg orally once daily or on alternate days, maximum 30-40 mg/day; weekend-only dose: 5 mg/kg orally once daily on each day of the weekend only

More

OR

deflazacort: 0.9 mg/kg orally once daily

Plus – psychosocial and neuropalliative care

Back
ACUTE
|
DMD: early non-ambulatory stage
Plus – 

psychosocial and neuropalliative care

Treatment recommended for ALL patients in selected patient group

Psychosocial care for patients should be lifelong. All patients should be assessed for intellectual disability, autism spectrum disorder, ADHD, depression, and anxiety. Cognitive and behavioural interventions and medication should be offered as appropriate.[30][31]​​

If there are concerns about a child's developmental progress, referral for comprehensive neuropsychological evaluation is required, for assessment of cognitive development, academic skills, social functioning, emotional adjustment, and behavioural regulation. Interventions should be offered as needed, with a formal education plan that is re-assessed regularly to reflect the child's changing needs and progress.[30] 

Adolescents with DMD have the additional extra burden of severe and progressive disability in addition to the psychological needs of adolescents in general. Patients may benefit from psychotherapy specifically tailored to them from psychologists specialised in their care.[30][42]

Key components of palliative care include informed goals-of-care discussions, advance directive planning, symptom management, and end-of-life support.[22][30][31][75]​​​[76]

Plus – interventions to maintain activities of daily living

Back
ACUTE
|
DMD: early non-ambulatory stage
Plus – 

interventions to maintain activities of daily living

Treatment recommended for ALL patients in selected patient group

Assistive technology, adaptive devices, and mobility aids should be provided to help patients optimise function, and maintain activities of daily living, participation, and quality of life.[10]

Patients benefit from the use of a standard and/or a motorised wheelchair.[10] Standing motorised wheelchairs help to maintain bone and articular integrity, and optimise psychological outlook. A trial of a standing motorised wheelchair is suitable for patients who are motivated to stand, have tolerance and comfort in supported standing for at least 10 minutes, and have ankle contracture of less than 10 degrees.[52]

Moulded ankle-foot orthotics may be beneficial for stretching or positioning during the day, and decreasing the rate of musculotendinous contracture development.[10][53]​​

Robotic arms exist that are programmable, portable, and adaptable to various surfaces and applications. They can assist with most upper limb activities. Computers for environmental control and lower limb resting splints may be beneficial.[10]

Consider – respiratory management

Back
ACUTE
|
DMD: early non-ambulatory stage
Consider – 

respiratory management

Additional treatment recommended for SOME patients in selected patient group

Lung volume recruitment ('air stacking') is indicated when forced vital capacity (FVC) is 60% predicted or less. A self-inflating manual ventilation bag or a mechanical insufflation-exsufflation device is used to provide deep lung inflation beyond the patient's inspiratory capacity once or twice daily.[29][40]​​

Manual and mechanically assisted cough is recommended when FVC is less than 50% predicted, peak cough flow is less than 270 L/minute, or maximum expiratory pressure is less than 60 cm H₂O.[29]​​[31][40]

Consider – surgery for scoliosis

Back
ACUTE
|
DMD: early non-ambulatory stage
Consider – 

surgery for scoliosis

Additional treatment recommended for SOME patients in selected patient group

Patients treated with corticosteroids typically have milder spinal curvature than untreated patients, reducing the need for scoliosis surgery.​[11][29]​​​[54]​ However, spinal curvature should still be monitored regularly in all patients with DMD, as scoliosis can develop at a later age.[29] 

If significant scoliosis is present, the patient may be referred for posterior spinal fusion. The decision whether or not to offer surgery will depend on factors such as the age, skeletal maturity, and general health of the patient, and the extent of the spinal curve and how quickly the scoliosis is worsening. Progression of scoliosis in patients on corticosteroids is less predictable, so observation for evidence of progression is reasonable before intervention.​[11][29]

Spinal orthoses are not recommended.[29]

Plus – cardioprotective drugs

Back
ACUTE
|
DMD: early non-ambulatory stage
|
with cardiac symptoms, or by age 10 years without cardiac symptoms
Plus – 

cardioprotective drugs

Treatment recommended for ALL patients in selected patient group

Evidence favours the early treatment of patients with DMD and other dystrophinopathies, but whether such treatment should begin before onset of cardiac symptoms (e.g., reduced left ventricular ejection fraction [LVEF]) or evidence of abnormality on imaging is debated.​[29][33][34][35]​​​​​ One study reported that prophylactic ACE inhibitor treatment was associated with a significantly higher overall survival and lower rates of hospitalisation for heart failure.[36]​ Starting patients with DMD on an ACE inhibitor or an angiotensin-II receptor antagonist by the age of 10 years has been recommended.[29]​​[31][35][37]​​​

Pharmacological therapy should always be started (if it has not been already) when a patient shows heart failure symptoms or signs of abnormalities on imaging. Typical treatment comprises an ACE inhibitor or an angiotensin-II receptor antagonist plus a beta-blocker.[29]​​[31][35][37]

There is some evidence that adjunctive eplerenone (a mineralocorticoid receptor antagonist) may provide additional benefit in patients with early cardiomyopathy.​[29][34][37][38][39]​​​

DMD: late non-ambulatory stage

1st line – continue corticosteroid + physiotherapy

Back
ACUTE
|
DMD: late non-ambulatory stage
1st line – 

continue corticosteroid + physiotherapy

Corticosteroid therapy and physiotherapy should continue.[10][29]​​

Corticosteroid treatment is usually with prednisolone or deflazacort. There is uncertainty about the optimal dosing regimens. A weekend-only prednisolone regimen may be as effective as daily prednisolone, with fewer adverse effects.[10][43][44]​​​

A home stretching programme focusing on the ankles, knees, and hips should be continued, under the guidance of a physiotherapist.[29]

Primary options

prednisolone: daily dose: 0.75 mg/kg orally once daily or on alternate days, maximum 30-40 mg/day; weekend-only dose: 5 mg/kg orally once daily on each day of the weekend only

More

OR

deflazacort: 0.9 mg/kg orally once daily

Plus – psychosocial and neuropalliative care

Back
ACUTE
|
DMD: late non-ambulatory stage
Plus – 

psychosocial and neuropalliative care

Treatment recommended for ALL patients in selected patient group

Psychosocial care for patients should be lifelong. All patients should be assessed for intellectual disability, autism spectrum disorder, ADHD, depression, and anxiety. Cognitive and behavioural interventions and medication should be offered as appropriate.[30][31] 

If there are concerns about a child's developmental progress, referral for comprehensive neuropsychological evaluation is required, for assessment of cognitive development, academic skills, social functioning, emotional adjustment, and behavioural regulation. Interventions should be offered as needed, with a formal education plan that is re-assessed regularly to reflect the child’s changing needs and progress.[30] 

Adolescents with DMD have the additional extra burden of severe and progressive disability in addition to the psychological needs of adolescents in general. Patients may benefit from psychotherapy specifically tailored to them from psychologists specialised in their care.[30][42]

Adults with DMD (most of whom will be using assisted ventilation) will require ongoing psychosocial support, to maximise their independence, employment potential, and social integration.[30][31]

Key components of palliative care include informed goals-of-care discussions, advance directive planning, symptom management, and end-of-life support.[22][30][31][75]​​​[76]

Plus – assisted ventilation

Back
ACUTE
|
DMD: late non-ambulatory stage
Plus – 

assisted ventilation

Treatment recommended for ALL patients in selected patient group

Patients in the late non-ambulatory stage need assisted ventilation to prolong survival. Non-invasive ventilation is introduced for patients who are symptomatic for nocturnal hypoventilation with some combination of fatigue, morning headaches, daytime drowsiness, frequent nocturnal awakenings, and dyspnoea. Some patients with DMD do not show symptoms of hypoventilation, so nocturnal non-invasive ventilation is also recommended when a patient has forced vital capacity (FVC) below 50% predicted or maximum inspiratory pressure below 60 cm H₂O. Abnormal sleep studies (e.g., overnight oximetry, combination oximetry-capnography, and polysomnography with capnography) may also indicate a need for nocturnal ventilation. Nasal or oro-nasal non-invasive ventilation is used for nocturnal support.[29][40]​​

As patients require more ventilatory support, they extend non-invasive ventilation into daytime hours. Increased use of non-invasive ventilation may also be needed during intercurrent respiratory tract infections. Guidelines support the use of non-invasive assisted ventilation for up to 24 hours a day. Indications for daytime assisted ventilation include: blood oxyhaemoglobin saturation by pulse oximetry (SpO₂) below 95%, partial pressure of CO₂ above 45 mmHg, or symptoms of dyspnoea when awake. A mouthpiece is more commonly used during daytime hours, but nasal ventilation may be preferred by some patients, and is needed for patients whose lips cannot hold a mouthpiece.[29][40] 

Lung volume recruitment ('air stacking') is indicated when FVC is 60% predicted or less. A self-inflating manual ventilation bag or a mechanical insufflation-exsufflation device is used to provide deep lung inflation beyond the patient's inspiratory capacity once or twice daily.[29][40]

Manual and mechanically assisted cough is recommended when FVC is less than 50% predicted, peak cough flow is less than 270 L/minute, or maximum expiratory pressure is less than 60 cm H₂O.[29]​​[31][40]

Combination of non-invasive assisted ventilation with manual and mechanically assisted cough as needed is highly effective at prolonging life, and tracheostomy is not usually required. Indications for tracheostomy include: patient preference, inability to use non-invasive ventilation (e.g., due to cognitive impairment), three failed extubation attempts during a critical illness despite optimum use of non-invasive ventilation and mechanically assisted cough, or failure of non-invasive methods of cough assistance to prevent aspiration.[29][40] 

Diaphragm pacing should not be used for patients with muscular dystrophies because it is ineffective and may be harmful.[55][56]

Plus – cardioprotective drugs

Back
ACUTE
|
DMD: late non-ambulatory stage
Plus – 

cardioprotective drugs

Treatment recommended for ALL patients in selected patient group

Typical treatment comprises an ACE inhibitor or an angiotensin-II receptor antagonist plus a beta-blocker.[29]​​[31][35][37]

Consider – treatment for rhythm abnormalities

Back
ACUTE
|
DMD: late non-ambulatory stage
Consider – 

treatment for rhythm abnormalities

Additional treatment recommended for SOME patients in selected patient group

Patients with DMD in the late non-ambulatory stage are at risk of rhythm abnormalities. These can be treated with standard anti-arrhythmic medications or device management. There are no specific recommendations for DMD patients, but guidelines for adults with established heart failure recommend the use of an implantable cardioverter defibrillator for patients with left ventricular ejection fraction (LVEF) below 35%.[29][37] 

Consider – left ventricular assist device

Back
ACUTE
|
DMD: late non-ambulatory stage
Consider – 

left ventricular assist device

Additional treatment recommended for SOME patients in selected patient group

Mechanical circulatory support, such as a left ventricular assist device, may be considered if maximal medical management is ineffective. Inherent risks (e.g., thromboembolism, bleeding, infection, device malfunction, right heart failure) and potential benefits must be carefully considered and discussed with the patient.[29][37]

Plus – gastrostomy tube placement

Back
ACUTE
|
DMD: late non-ambulatory stage
|
with severe dysphagia
Plus – 

gastrostomy tube placement

Treatment recommended for ALL patients in selected patient group

An indwelling gastrostomy tube is required for patients who cannot swallow safely, or who cannot maintain adequate nutrition or hydration despite other interventions.[10][31]

spinal muscular atrophy (SMA)

1st line – psychosocial and neuropalliative care

Back
ACUTE
|
spinal muscular atrophy (SMA)
1st line – 

psychosocial and neuropalliative care

Multidisciplinary care is key, focusing on prolonging function, symptom management, and maintaining a good quality of life for as long as possible. Care coordination is vital.[3][28]

Comprehensive, lifelong psychosocial care is essential. It should address social, emotional, and cognitive development, quality of life, and participation. Support for families (parents and siblings) and other carers should also be provided.[28] 

Early neuropalliative care consultation is recommended. Patients should be supported using the principles of palliative care and, in particular, the use of a holistic approach to support patients and their families throughout the illness course. Key components of palliative care include informed goals-of-care discussions, advance directive planning, symptom management, and end-of-life support.[28][75]

Advance directives and wishes for end-of-life care should be discussed with the patient and/or family/carers as early as possible, long before hospice care is needed, and should be an ongoing conversation.[75] 

Plus – symptom management

Back
ACUTE
|
spinal muscular atrophy (SMA)
Plus – 

symptom management

Treatment recommended for ALL patients in selected patient group

The different forms of SMA have different degrees of severity, and guidelines provide recommendations for non-sitters, sitters, and walkers.[3][28]

Stretching and positioning: modalities include using orthoses, splints, active-assistive and passive methods, supported supine/sitting/standing frames, serial casting, and use of postural supports.[3] 

Airway clearance is by manual chest physiotherapy plus mechanical insufflation-exsufflation. Non-invasive ventilation is recommended for all symptomatic non-ambulatory children. It is also recommended for non-sitters before signs of respiratory failure are apparent.[28][40]

Mobility and exercise: power assist and manual wheelchairs with postural support maximise mobility. Exercise is tailored to the ability of the patient, and may include aquatic therapy, aerobic and general conditioning exercise with and without resistance, and balance exercise.[3] One Cochrane review concluded that it is uncertain whether combined strength and aerobic exercise training is beneficial or harmful for people with SMA type 3.[74]

Management of spine deformity and contractures: scoliosis is common in patients with SMA type 1 or 2. Spinal orthoses may be used initially, but surgery is often required. Contractures are managed with stretching and orthoses.[3] 

Other complications of SMA that may require management include cardiac symptoms, dysphagia, weight control, and growth failure.[3][28] 

Consider – nusinersen or onasemnogene abeparvovec or risdiplam

Back
ACUTE
|
spinal muscular atrophy (SMA)
Consider – 

nusinersen or onasemnogene abeparvovec or risdiplam

Additional treatment recommended for SOME patients in selected patient group

Pharmacotherapy may be used in select patients. These drugs have different mechanisms of action and are approved for different patient populations. Patients should not receive more than one of these drugs at a time, but may be switched from one drug to another, as appropriate, under specialist guidance.

Nusinersen is an antisense oligonucleotide that can be used to treat patients with SMA.[57]​ It is approved by the European Medicines Agency (EMA) and the US Food and Drug Administration (FDA). One Cochrane review concluded that intrathecal nusinersen improves motor function in patients with SMA type 2, based on moderate‐certainty evidence.[58]​ Subsequent studies reported improved or stabilised motor function in patients with SMA type 2 or 3 after 12-24 months of treatment with nusinersen.[59][60][61]​ One Cochrane review concluded that nusinersen probably prolongs ventilation‐free and overall survival in infants with SMA type 1, and that a greater proportion of infants treated with nusinersen than with a sham procedure achieve motor milestones and may be classed as responders.[62]​ Communicating hydrocephalus (not related to meningitis or bleeding) has been reported in some people during treatment with nusinersen. Most cases developed after 2-4 loading doses. The UK Medicines and Healthcare products Regulatory Agency (MHRA) recommends prompt investigation of any case suggestive of communicating hydrocephalus in patients treated with nusinersen, informing patients about the signs and symptoms of communicating hydrocephalus before starting treatment, and advising patients to seek urgent medical attention should any possible symptoms or signs develop.[63]

Onasemnogene abeparvovec is a gene therapy for children under 2 years of age with SMA type 1.[64]​ It is approved by the EMA and the FDA. A one-time intravenous administration of onasemnogene abeparvovec results in expression of the survival motor neuron (SMN) protein in a child's motor neurons, and has been reported to improve event-free survival, motor function, and motor milestone outcomes for up to 5 years.[65][66][67][68][69]​ There is a risk of hepatotoxicity and thrombotic microangiopathy. Fatal cases of acute liver failure have been reported, and liver function should be monitored before and after treatment.

Risdiplam is an SMN2-directed RNA splicing modifier for the treatment of SMA in adults and children.[70]​​ It is approved by the EMA and the FDA. It is the first orally administered treatment that patients can take at home. In trials including patients from age 1 month, risdiplam was associated with clinically meaningful improvements in motor function and achievement of developmental milestones in patients with SMA type 1, 2, or 3, and increased expression of functional SMN protein in patients with SMA type 1.[71][72]​​​ Improvements for patients with SMA type 1 have been recorded over 24 months.[73]

Primary options

nusinersen: children and adults: 12 mg intrathecally every 14 days for 3 doses, followed by 12 mg 30 days after the third dose, then 12 mg every 4 months thereafter

OR

onasemnogene abeparvovec: children <2 years of age: consult specialist for guidance on dose

OR

risdiplam: children <2 months of age: 0.15 mg/kg orally once daily; children ≥2 months to <2 years of age: 0.2 mg/kg orally once daily; children ≥2 years of age and <20 kg body weight: 0.25 mg/kg orally once daily; children ≥2 years of age and ≥20 kg body weight and adults: 5 mg orally once daily

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Choose a patient group to see our recommendations

Please note that formulations/routes and doses may differ between drug names and brands, drug formularies, or locations. Treatment recommendations are specific to patient groups. See disclaimer

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