New guidelines for physicians seek to improve and standardize diagnosis, treatment and medical management of individuals with congenital muscular dystrophy
Neurologist Carsten Bonnemann, co-director of the MDA Clinic at Children's Hospital of Philadelphia and a current and former MDA grantee for work on congenital muscular dystrophy, was one of the physicians who developed the CMD Standard of Care. Here, he visits with a child affected by CMD. (2005 photo)
An international panel of doctors and scientists, including many supported by MDA, has produced the first-ever Standard of Care guidelines for congenital muscular dystrophies (CMD).
Published December 1 in the Journal of Child Neurology, the guidelines are intended to improve and standardize diagnosis, treatment and clinical care of people affected by this rare group of neuromuscular disorders.
The guidelines urge a proactive, preventative and multidisciplinary approach to the physical, cognitive and emotional difficulties caused by CMD.
In addition to improving and standardizing patient care, the guidelines will facilitate planning of future clinical trials and may help affected people obtain insurance coverage for CMD-related problems.
Editor's note: This article was updated on Jan. 6, 2011, to include a direct, free link to the Journal of Child Neurology article about the CMD guidelines.
A panel of 82 international experts — including several MDA grantees and clinic directors — has produced the first-ever care guidelines for the congenital muscular dystrophies (CMD), a group of genetic neuromuscular disorders that have their onset at birth or in early infancy.
The standards of care are intended to inform pediatric neurologists and other health care professionals who work with CMD-affected families about the latest developments in diagnosis, treatment and medical management of these rare diseases.
The guidelines urge a proactive and preventative approach to CMD diagnosis and care. Multidisciplinary interventions are favored, since different types of CMD are known to affect various organs and systems in the body and may cause life-threatening symptoms.
Basis for clinical trials
In addition to informing medical practitioners of the latest advances in genetic testing and clinical practice, the guidelines may help families obtain insurance coverage for necessary treatments. The guidelines also establish a standard of care that may be used as a basis for future clinical trials.
“There are several therapeutic targets on the horizon for which trials are feasible in the next few years,” said Ching Wang, a pediatric neurologist at Stanford Medical School who led the team that developed the guidelines. (Wang is also a former MDA grantee for his work on spinal muscular atrophy.) “Without established care standards, it would be almost impossible to conduct a scientifically valid trial,” he said.
Subtypes and symptoms
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.
These conditions can cause a variety of symptoms, including muscle weakness and wasting, problems with heart and lung function, vision and hearing difficulties, and mental retardation. The variety of symptoms and rarity of these disorders frequently result in misdiagnoses and improper care, problems that the CMD Standard of Care was written to address.
The CMD Standard of Care was developed through online surveys of dozens of experts in the field and families affected by CMD. After conducting the surveys, the International Standard of Care committee met in Belgium in late 2009 to go over the responses and establish the guidelines.
The committee included Wang and other physicians, researchers and physical therapists associated with MDA, including Carsten Bonnemann, Julaine Florence, Kate Bushby, Ronald Cohn, Anne Connolly, Susan Iannaccone, Francesco Montoni and Brian Tseng. (MDA did not fund these individuals for this particular project, however.)
The CMD guidelines are divided into six areas of clinical care:
gastrointestinal, nutritional and oral care
orthopedics and rehabilitation
Best practices in both acute (emergency) and chronic (non-emergency) care are described.
Below is a brief summary of guidelines in these six areas.
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 first meeting with the family should include the following five components: diagnosis, prognosis, recurrence risk (if known), treatment plan, and family support and community resources.
The treatment plan should introduce a multidisciplinary approach and include pulmonologists, cardiologists, ophthalmologists, physiotherapists, orthopedists, possibly others, and ideally, a palliative care specialist to optimize quality of life.
A follow-up visit with a genetic counselor may be in order, but since 50 percent of children with CMD may not have a specific genetic diagnosis, supportive care should take place regardless of whether or not a specific genetic diagnosis is made.
Problems related to congenital brain malformation, which occurs in some forms of CMD, include mental retardation, behavioral and learning problems, autistic features, emotional problems, seizures and vision problems. The Standard of Care discusses various medications for seizures and recommends that neurologists act as advocates to obtain the best possible professional and community supports and services for the child with CMD-related mental and emotional issues.
All types of CMD can lead to the development of respiratory failure, and in some types, breathing problems may be severe from birth.
A proactive approach is favored because breathing problems can be present before they become noticeable. Weak crying, ineffective cough, choking on feedings, weight loss and repeated infections all can be signs of respiratory distress, even though, because of motor weakness, typical signs like breathlessness may not be present.
The guidelines address how to accurately assess and monitor breathing problems in children and adults with CMD and recommend that noninvasive ventilation be offered, particularly at night, before respiratory distress becomes acute.
Aggressive treatment of acute respiratory tract infections is particularly important, as these infections are the most common cause of hospital admissions and death in people with CMD.
Gastrointestinal, nutritional and oral care
Feeding and swallowing difficulties are significant problems in some types of CMD. Individuals with this problem should be observed and evaluated by a qualified specialist, using a video-flouroscopic swallow assessment, if possible.
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 these recommendations are insufficient, gastrostomy tube feeding should be considered.
Muscle weakness and facial malformation can lead to speech problems in some people with CMD. There is no evidence that oral motor therapy and exercises help improve speech, but they may help resolve feeding problems.
Orthopedics and rehabilitation
Orthopedic symptoms, such as joint contractures, scoliosis, foot and spine deformities, rigid spine, hip dislocation and joint hypermobility, are some of the most common aspects of CMD.
A conservative and preventative 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.
Some types of CMD, such as merosin-deficient CMD, are associated with severe cardiac (heart) complications. Since undetected heart problems can worsen over time, the guidelines recommend that everyone undergo cardiac screening at the time a CMD diagnosis is made, or as soon as possible thereafter.
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. Cardiac symptoms sometimes are atypical, especially in younger patients, and can start late in the course of the disease.
Since severe heart arrhythmia can lead to sudden death, implantation of a defibrillator should be considered.
Palliative care seeks to incorporate the emotional, spiritual, developmental and physical aspects of caring for a person with a life-threatening disease. It is a comprehensive and multidisciplinary model that benefits patients, caregivers and practitioners as they seek to maximize the life span and well-being of the person with CMD.
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.
Meaning for CMD-affected families
In addition to providing information about current care for the CMDs to families and their physicians, the guidelines may help families obtain insurance coverage for CMD-related problems, and explain such problems to physicians and other health care providers who may be unfamiliar with these diseases.