Consensus statement on standard of care for congenital muscular dystrophies

Abstract

Congenital muscular dystrophies are a group of rare neuromuscular disorders with a wide spectrum of clinical phenotypes. Recent advances in understanding the molecular pathogenesis of congenital muscular dystrophy have enabled better diagnosis. However, medical care for patients with congenital muscular dystrophy remains very diverse. Advances in many areas of medical technology have not been adopted in clinical practice. The International Standard of Care Committee for Congenital Muscular Dystrophy was established to identify current care issues, review literature for evidence-based practice, and achieve consensus on care recommendations in 7 areas: diagnosis, neurology, pulmonology, orthopedics/rehabilitation, gastroenterology/ nutrition/speech/oral care, cardiology, and palliative care. To achieve consensus on the care recommendations, 2 separate online surveys were conducted to poll opinions from experts in the field and from congenital muscular dystrophy families. The final consensus was achieved in a 3-day workshop conducted in Brussels, Belgium, in November 2009. This consensus statement describes the care recommendations from this committee.

Figure 1

Axial brain magnetic resonance image of a 3-year-old girl with genetically confirmed, merosin-negative congenital muscular dystrophy (MDC1A). Her brain magnetic resonance image showed a “leukoencephalopathy-like” picture with diffuse, symmetric, abnormal signal in the deep and subcortical white matter, centrum semiovale, and corona radiata (see black arrows). The affected white matter is hyperintense on this T2- weighted image.

Figure 2

A prototype of the Garchois brace, a trunk orthosis created to prevent or treat spinal deformities. It allows comfortable and stable sitting position and does not impair respiratory function. A mold is made with the patient in lying position while cervical and pelvic tractions are opposed to reduce the spinal deformity (corrective molding). (a) It is made of plexidur, a rigid but light and heat-deformable material, and is constituted by several pieces attached. A back piece allows elongation of the trunk length in order to follow spinal growth. The brace does not interfere with respiratory function because of the absence of thoracic compression. Trunk weight is supported on the hips, and prevention of spinal collapse is obtained by prehumeral supports. A neck piece allows head support or offers a slight cervical traction to prevent spinal collapse. (b) A patient with merosin-deficient congenital muscular dystrophy (MDC1A) showing partial correction of dorsal and lumbar lordosis (lateral view) and of the scoliosis (frontal view).

Figure 3

Trajectories of chronic illness through the life span. This figure represents disease trajectories of 4 fictional children living with congenital muscular dystrophy from birth throughout their life span. Life-limiting conditions permeate each child’s life as represented by the 4 lines above, whereas life-threatening episodes, represented by dips in the lines, occur intermittently throughout the trajectory of each child’s life. The life-limiting disease serves as the platform to discuss available choices for life-threatening complications before they occur. The figure also depicts that health status can improve after each life-threatening episode with a variable overall decline in the life trajectory.