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Congenital Muscular Dystrophy

Congenital muscular dystrophy is a term applied to a group of inherited muscular diseases, characterized by a number of variable symptoms associated with progressive muscle weakness, present from birth. Features present in the different disorders vary, depending upon the location and the extent of gene mutation. Most types of Congenital Muscular Dystrophy manifest as muscle weakness and disability, however, some of them have a profound impact on life span as well.

Congenital muscle dystrophy includes Rigid Spine with Muscular Dystrophy Type I, Congenital Muscular Dystrophy with Secondary Laminin deficiency (1), Congenital Muscular Dystrophy with Secondary Laminindeficiency (2), Congenital Muscular Dystrophy associated with metal retardation and Pachygyria, which presents as recurrent infantile seizures, epilepsy and delayed development, Fukuyama congenital Muscular Dystrophy, which is a rare form, showing delayed muscle, brain and eye development not online Muscle-Eye-Brain disease, Walker-Walburg syndrome, which presents with hydrocephalus and abnormal eye development in addition to skeletal muscle weakness, Laminin Alpha-2 deficient Congenital Muscular Dystrophy, and Ullrich Congenital Muscular Dystrophy, which is characterized by muscle weakness, contractures in the proximal joints and hyperflexed distal joints.

Symptoms of Congenital Muscular Dystrophy

The most significant feature of all types of Congenital Muscular Dystrophy is progressive muscle weakness, which manifests as limp and flaccid infants with poor muscle tone (hypotonia) and diminished reflexes, along with delayed reflexes. Other features that commonly accompany the muscle manifestations include infantile seizures, persistent epilepsy, lissencephaly, abnormal cerebral cortex,, delayed myelination, mental restriction, diminished social skills, decreased vision, and less common features like a rigid lower spine, kyphosis, lumbar lordosis, dermatological manifestations like hyperkeratosis, keloids, soft friable skin, respiratory complications, and occasionally a high-arched palate reminiscent of Downs syndrome. The children can either not walk at all, and the children who learn how to walk gradually lose the ability. Occasionally, muscle wasting progresses beyond the axial skeleton as well.

Congenital Muscular Dystrophy Treatments

There is no known treatment for Congenital Muscular Dystrophy. However, with adequate supportive and assistive therapy, the quality of life can be raised. Physical therapy and wheelchair assists help in independence of movement, as well as corrective surgery for the spinal deformities,for scoliosis and kyphosis in Congenital Muscular Dystrophy. Maintaining the alignment of the spine after corrective surgery is of utmost importance as well.

Non invasive ventilation and cough assist devices help in maintaining a functional and patent airway, in cases uncomplicated by pneumonia or mucus plugs in the bronchi. In rare cases, children develop congestive cardiac failure due to weakening of the cardiac muscle, which requires symptomatic management.

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