Duchenne Muscular Dystrophy DMD

a fatal genetic disorder resulting in progressive muscle weakness

aadc dopamine deficiency
%

Case Experience
Developmental Delay

Yrs

Avg. Age Loss
of Ambulation

0

Cases diagnosed
annually in boys

2 Yrs

Avg. Age of Onset

Duchenne Muscular Dystrophy

Duchenne Muscular Dystrophy (DMD) is a rare genetic disease that causes progressive weakening of the muscles and skeletal frame. This, in turn, can lead to the development of serious physical and mental disabilities.

DMD progresses at rate that sees most patients become bound to a wheelchair by their teenage years, and as patients age further into their adult years, the disease begins to affect the lungs and heart. It is much more prevalent in boys, with 1 in every 50,000 newborn males being diagnosed with DMD, whereas just 1 in 50,000,000 females are reported to develop the condition. 

There is currently no known cure for DMD, however there are several treatments that can help reduce the severity of some symptoms to give patients a better quality of life.

Duchenne Symptoms
Duchenne Symptoms

DMD rapidly weakens the skeletal frame, as well as the smooth muscle fibers and cardiac muscle cells surrounding it. This attack on the body’s muscles cause vital bodily functions to break down, and as a result, causes serious mobility, cognitive and respiratory issues.

Symptoms range in severity from muscle cramps and arthritic pain, to complete loss of muscle function and even respiratory failure. 

Physical symptoms of DMD may be more apparent than those affecting a patients mental health, however major impairment of long term memory, intelligence disorder, attention deficit, difficulty with in arithmetic, writing and reading, have been shown to affect around 1/3 of all DMD patients.

At the mildest end of the spectrum exercise-induced muscle cramps and myoglobinuria may be the only feature while at the severe end, there may be complete loss of muscle function, cardiomyopathy and respiratory failure. 

Patients may show a delay in walking and/or global developmental delay. This can also be accompanied by speech impediments, behavioral problems such as ADHD (attention deficit hyperactivity disorder), obsessive-compulsive disorder and severe anxiety.

Left untreated it is common for children with DMD to quickly become unable to run or jump. As the condition progresses the child may develop a waddling gait and walk with the self-assistance of a positive Gowers’ sign. Climbing stairs also becomes difficult and dangerous as the child is more likely to fall frequently. 

Loss of independent ambulation occurs between the ages of 6 and 13 years, with the average being approx. 9 years. Once the ability to walk unaided develops, joint contractures and scoliosis also develop quickly after.

In the most severe cases, death due to DMD is typically caused by the lung and/or hearth problems that develop as the muscular dystrophy carries out its irreversible affects on these vital respiratory organs.

 

Causes

Diagnosis of DMD is generally carried out using several methods that may include a muscle biopsy, and/or genetic blood test using multiplex-ligation dependent probe amplification (MLPA), as well full gene sequencing; currently considered the gold standard.

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Treatment for DMD takes a multidisciplinary approach. Although there is currently no known cure for the group of dystrophinopathies that cause DMD, pro-active lifestyle management and medications such as corticosteroids (prednisolone, prednisone or deflazacort) can help to stabilize motor function, delay the onset of gait problems and even hold off respiratory failure by several years. 

In addition, physiotherapy aimed at loosening joints and giving the patient more mobility, will often includes simple, passive stretching and night time, and may also require the patient to wear ankle-foot orthoses (AFO) in order to reduce tendo-Achilles contractures or deformity.

Corticosteroids are typically introduced when the child’s motor skills begin to plateau; this is usually around the ages 4-5. Therapy using corticosteroid isn’t failsafe, complications can happen and thus certain factors must be well monitored. These may include weight management and gastric protection, monitoring and treating osteoporosis, and performing ophthalmic assessment for cataracts and glaucoma.

The Europe, the drug Ataluren is prescribed for patients who are over the age of 5 and still mobile, who developed the condition as a result of non-sense mutations.

Other health factors that must be monitored include cardiac management via the use of echo and/or MRI, as well as prophylactic treatment to maintain cardiac function.

Corticosteroids & Ataluren Medications

Corticosteroids are typically introduced when the child’s motor skills begin to plateau; this is usually around the ages 4-5. Therapy using corticosteroid isn’t failsafe, complications can happen and thus certain factors must be well monitored. These may include weight management and gastric protection, monitoring and treating osteoporosis, and performing ophthalmic assessment for cataracts and glaucoma.

In Europe, the drug Ataluren is prescribed for patients who are over the age of 5 and still mobile, who developed the condition as a result of non-sense mutations.

Cardiac and Respiratory Management

Other health factors that must be monitored include cardiac management via the use of echo and/or MRI, as well as prophylactic treatment to maintain cardiac function.

Respiratory management involves the monitoring of the body’s respiratory function, together with sleep assessment for hypoventilation and timely introduction of BiPAP (bilevel positive airway pressure). Non-invasive ventilation (NIV) to treat respiratory failure has been shown to prolong a patient’s life expectancy.

Physiotherapy

In addition, physiotherapy aimed at loosening joints and giving the patient more mobility, will often includes simple, passive stretching and night time, and may also require the patient to wear ankle-foot orthoses (AFO) in order to reduce tendo-Achilles contractures or deformity.

Vaccines & Surgery

Vaccines for Pneumococcal and flu, together with cough augmentation techniques maybe also be advise for older patients. Surgery may be required for correction of scoliosis.

XLDCM, lethal heat failure, can also be a result of the DMD mutations, and these extremely severe cases cardiac transplantation is the treatment of choice.

Have questions?

Duchenne muscular dystrophy is the most common type of severe hereditary myopathies (disorders of skeletal muscles). It affects male at a much greater rate; affecting approx. 1 in every 3,600 male live-born infants, whereas only 1 in every 50,000,000 girls are diagnosed with the disease.

DMD results from a genetic mutation on one of the mother’s X chromosomes. This disrupts the producing of dystrophin, a protein responsible preventing the breakdown of muscle fibers.

Several studies, and many online anecdotes from reputable support groups and forums offer much in way of advice when it comes to living with DMD. Many symptoms are treatable to some extent, and although the condition is unfortunately fatal, most report having a reasonable quality of life whilst their mobility largely remains.

Genetic counseling for DMD is very important, during these sessions you’ll be able to gain a wealth of knowledge from your specialist.

Ask about local support groups, and/or online forums where others living with DMD go to share their stories and helpful tips that make their lives that little bit easier.

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