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杜興氏肌肉營養不良症

Name of disease:

Duchenne Muscular Dystrophy

ICD-10 diagnosis code:

G71.01

Causes:

Duchenne muscular dystrophy (DMD) is occurs when the DMD gene is not working correctly. Different DNA variants in the DMD gene can cause a spectrum of disorders known as dystrophinopathies. The dystrophinopathies can range from very mild symptoms to the more severe symptoms seen in people with DMD.

Mode of inheritance:

X-linked recessive inheritance

Prevalence:

~ 1-9:100,000 people

Diagnosis:

Physical examination assesses muscle condition and other symptoms Blood tests (check the level of serum creatine kinase) Genetic testing

Age of onset:

Childhood

Common signs and symptoms:

Delayed motor development Waddling walk pattern Enlarged calf muscles Calf pain Muscle weakness (Hips, pelvic area, thighs and shoulders, and later in the arms, legs and trunk) Tight or rigid joints Abnormal curvature of spine Progressive enlargement of the heartCognitive impairment Elevated serum creatine kinase Prominent swayback Decreased reflex response Acid reflux

Available treatments (medicinal and non-medicinal):

Currently there is no known cure for Duchenne muscular dystrophy (DMD). Treatment is focused on managing the symptoms of DMD and related complications caused by severe progressive muscle weakness and loss. Medications (such as steroids) may improve the strength and function of muscles. An enlarged, weakened heart (dilated cardiomyopathy) may be treated with medications, but in severe cases, a heart transplant may be necessary. Assistive devices for breathing difficulties may be needed, especially at night and as the disease progresses. The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Deflazacort FDA-approved indication: February 2017, Deflazacort was approved for the treatment of Duchenne Muscular Dystrophy in patients 5 years of age and older. Eteplirsen FDA-approved indication: September 2016, Eteplirsen was approved for the treatment of Duchenne muscular dystrophy (DMD) in patients who have a confirmed mutation of the DMD gene that is amenable to exon 51 skipping. Golodirsen FDA-approved indication: December 2019, golodirsen was approved for the treatment of Duchenne muscular dystrophy (DMD) in patients who have a confirmed mutation of the DMD gene that is amenable to exon 53 skipping.

Disease management tips:

Complications of corticosteroid therapy must be managed and include: weight management, gastric protection, monitoring and treatment of osteoporosis, ophthalmic assessment for cataracts and glaucoma. Physiotherapy includes passive stretching and night time ankle-foot orthoses (AFO) to reduce tendo-Achilles contractures. Cardiac management includes regular monitoring (echo and/or MRI) and prophylactic treatment with ACE inhibitors and/or beta inhibitors to maintain cardiac function. Respiratory management includes monitoring respiratory function, assessment for sleep hypoventilation and timely introduction of BiPAP (bilevel positive airway pressure). In older patients cough augmentation and pneumococcal and flu vaccines are recommended. Surgery may be required for correction of scoliosis.

References:

https://rarediseases.info.nih.gov/diseases/6291/duchenne-muscular-dystrophy https://rarediseases.org/rare-diseases/duchenne-muscular-dystrophy/ https://www.orpha.net/consor/www/cgi-bin/OC_Exp.php?lng=EN&Expert=98896

Other useful websites:

Patient Groups: Hong Kong Neuro-muscular Disease Association Limited https://hknmda.org.hk/ DuchenneConnect http://www.duchenneconnect.org CureDuchennehttps://www.cureduchenne.org/