Muscular dystrophies - Symptoms, Causes, Images, and Treatment Options

Diseases

Highlights & Basics

Key Highlights

Muscular dystrophies are a group of inherited diseases characterized by progressive muscle degeneration and weakness. They are caused by mutations in genes encoding muscle proteins. Over 40 causative genes have been identified.
Duchenne muscular dystrophy (DMD) is the most common and most rapidly progressive muscular dystrophy. It is an X-linked condition and so usually affects only boys. Most patients lose the ability to walk by 12 years of age and require ventilatory support by 20 years of age.
Diagnosis of DMD is often delayed. Signs that indicate possible DMD include: delayed motor milestones, frequent falls, abnormal gait, muscle pain, calf hypertrophy, speech and language delay, and difficulty with jumping, running, climbing steps, and rising from the floor. Creatine kinase levels are elevated. Diagnosis is confirmed by genetic testing.
Multidisciplinary care for patients with DMD is focused on prolonging function, symptom management, and maintaining a good quality of life for as long as possible. Survival has been improved by the use of noninvasive respiratory support and cardioprotective drugs. Severe scoliosis and the need for corrective surgery can be avoided, and the need for mechanical ventilation delayed, by early and aggressive use of corticosteroids.
With few exceptions, all generalized muscle dystrophies can be managed using the principles for managing DMD. This is also the case for spinal muscular atrophy (SMA), an inherited motor neuronopathy with symptoms similar to those of the muscular dystrophies. Drugs for treating SMA are now available in clinical practice.

A 47-year-old man with Duchenne muscular dystrophy using a 15 mm angled mouthpiece for daytime ventilatory support

From the collection of John R. Bach, MD, FAAPMR; used with permission

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Images

7-year-old boy with Duchenne muscular dystrophy standing, maintaining center of gravity behind the hips and anterior to the knees
A 47-year-old man with Duchenne muscular dystrophy showing use of a computer for environmental control: A) joystick adapter that lets patient use computer games; B) mini-joystick; C) device that allows patient to use 5 single switches to operate any device that accepts 1 multiple switch; D) platform switch activated by pressing down on raised pad; E) microlight activated by pressing on top surface with feather-light touch; F) head-pointing device that allows patient to move a cursor by moving their head
A 47-year-old man with Duchenne muscular dystrophy using a 15 mm angled mouthpiece for daytime ventilatory support

Citations

Key Articles

Mercuri E, Finkel RS, Muntoni F, et al; SMA Care Group. Diagnosis and management of spinal muscular atrophy: part 1: recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Neuromuscul Disord. 2018 Feb;28(2):103-15.[Abstract][Full Text]
Birnkrant DJ, Bushby K, Bann CM, et al; DMD Care Considerations Working Group. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management. Lancet Neurol. 2018 Mar;17(3):251-67.[Abstract][Full Text]
Finkel RS, Mercuri E, Meyer OH, et al; SMA Care Group. Diagnosis and management of spinal muscular atrophy: part 2: pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics. Neuromuscul Disord. 2018 Mar;28(3):197-207.[Abstract][Full Text]
Birnkrant DJ, Bushby K, Bann CM, et al; DMD Care Considerations Working Group. Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management. Lancet Neurol. 2018 Apr;17(4):347-61.[Abstract][Full Text]
Birnkrant DJ, Bushby K, Bann CM, et al; DMD Care Considerations Working Group. Diagnosis and management of Duchenne muscular dystrophy, part 3: primary care, emergency management, psychosocial care, and transitions of care across the lifespan. Lancet Neurol. 2018 May;17(5):445-55.[Abstract][Full Text]
Feingold B, Mahle WT, Auerbach S, et al. Management of cardiac involvement associated with neuromuscular diseases: a scientific statement from the American Heart Association. Circulation. 2017 Sep 26;136(13):e200-31.[Abstract][Full Text]
Gloss D, Moxley RT 3rd, Ashwal S, et al. Practice guideline update summary: corticosteroid treatment of Duchenne muscular dystrophy: report of the Guideline Development Subcommittee of the American Academy of Neurology. Neurology. 2016 Feb 2;86(5):465-72.[Abstract][Full Text]

Other Online Resources

Muscular Dystrophy Association: Duchenne muscular dystrophy
Treat NMD
Cure CMD

Referenced Articles

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97. ClinicalTrials.gov. A study to evaluate the safety and tolerability of PF-06939926 gene therapy in Duchenne muscular dystrophy. NCT03362502. Dec 2022 [internet publication].[Full Text]
98. Pfizer. Pfizer's new phase 1b results of gene therapy in ambulatory boys with Duchenne muscular dystrophy (DMD) support advancement into pivotal phase 3 study. May 2020 [internet publication].[Full Text]
99. ClinicalTrails.gov. A phase 3 study to evaluate the safety and efficacy of PF-06939926 for the treatment of Duchenne muscular dystrophy. NCT04281485. May 2023 [internet publication].[Full Text]
100. ClinicalTrials.gov. AFFINITY DUCHENNE: RGX-202 gene therapy in participants with Duchenne muscular dystrophy (DMD). NCT05693142. Mar 2023 [internet publication].[Full Text]
101. McDonald CM, Marbán E, Hendrix S, et al; HOPE-2 Study Group. Repeated intravenous cardiosphere-derived cell therapy in late-stage Duchenne muscular dystrophy (HOPE-2): a multicentre, randomised, double-blind, placebo-controlled, phase 2 trial. Lancet. 2022 Mar 12;399(10329):1049-58.[Abstract][Full Text]
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103. ClinicalTrials.gov. Study to evaluate the long-term safety, tolerability, and biological activity of ATYR1940 in patients with limb girdle and facioscapulohumeral muscular dystrophy (FSHD). NCT02836418. Apr 2017 [internet publication].[Full Text]
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