Care Guidelines Issued for Congenital Muscular Dystrophies

Neurologist Carsten Bonnemann at Children's Hospital of Philadelphia (CHOP), visits with a child with CMD. Bonnemann co-directs the MDA Clinic at CHOP and helped develop the new guidelines.
by Quest Staff on March 31, 2011 - 10:19am

QUEST Vol. 18, No. 2
Update (January 25, 2012): This story was updated to reflect the online availability of a CMD Family Guide.

A panel of 82 international experts — including several MDA grantees and clinic directors — has produced the first-ever “standard of care” guidelines for the congenital muscular dystrophies (CMDs), a group of genetic neuromuscular disorders that have their onset at birth or in early infancy.

CMD includes the following subtypes: merosin-deficient CMD, Ullrich CMD, Bethlem myopathy, integrin-deficient CMD, Fukuyama CMD, muscle-eye-brain disease, Walker-Warburg syndrome and CMD with rigid spine syndrome.

The guidelines are in the December 2010 issue of the Journal of Child Neurology, and can be accessed free online at

In January 2012, the European neuromuscular disease organization TREAT-NMD published a downloadable CMD Family Guide based on this journal publication.

The guidelines are intended to inform pediatric neurologists and other health care professionals about the latest developments in diagnosis, treatment and medical management of the CMDs. A brief summary follows.

Neurological care

The physician should meet with the family of a child with a clinical diagnosis of CMD as soon as possible, even before a specific genetic diagnosis is made.

The treatment plan should introduce a multidisciplinary approach, possibly including genetic counseling.

Neurologists should act as advocates to obtain the best possible professional and community services for the child with CMD-related mental and emotional issues.

Pulmonary care

A proactive approach is favored because breathing problems can be present before they become noticeable.

Breathing problems should be assessed and monitored, and noninvasive ventilation should be offered, particularly at night, before respiratory distress becomes acute.

Aggressive treatment of acute respiratory tract infections is particularly important.

Gastrointestinal, nutritional and oral care

Patients with feeding or swallowing difficulties should be evaluated by a qualified specialist, preferably using a video-flouroscopic swallow assessment.

Recommendations for the treatment and management of feeding problems include adaptations to positioning and seating, supports for self-feeding, safe swallowing techniques and food texture modification.

If the above recommendations are insufficient, gastrostomy tube feeding should be considered.

There is no evidence that oral motor therapy and exercises help improve speech, but they may help resolve feeding problems.

Orthopedic and rehabilitative care

A conservative and preventive approach to orthopedic symptoms is recommended. Regular stretching, maintaining proper positioning and environmental supports such as braces and orthotics are generally favored over surgical interventions.

Although spinal surgery has been shown to improve the quality of life of older children with progressive spinal deformity, great care should be taken to minimize the risks of surgical intervention, and postoperative, multidisciplinary care is essential.

Cardiac care

Since undetected heart problems can worsen over time, the guidelines recommend that everyone undergo cardiac screening as soon as possible once a CMD diagnosis has been made.

Cardiac investigations should be systematically performed during follow-up examinations, the frequency of which is dependent on the type of CMD and the level of cardiac involvement.

Since severe heart arrhythmias can lead to sudden death, implantation of a defibrillator should be considered.

Palliative care

Problems that can be addressed through palliative care include fatigue, pain, depression, anger, anxiety and other mental and emotional difficulties.

Established inpatient and outpatient palliative care resources should be offered, although other members of the medical team also may act as palliative care specialists.

Unclear diagnoses and uncertain prognoses are common features of CMD, requiring well-coordinated multidisciplinary care and strong patient-provider relationships throughout the changing course of the disease.

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