Muscle & Motor Problems

Almost all children diagnosed with holoprosencephaly have muscle tone abnormalities and motor problems.

The degree of delay and neurologic problems generally correlate with the severity of the brain malformation. Children having significant motor dysfunction (hypotonia, dystonia, spasticity, and abnormal movements) vary considerably by type of HPE. Children with lobar and MIH HPE generally had milder motor abnormalities than those with the more severe alobar and semilobar forms. Many children with HPE have upper limb dystonia and lower limb spasticity.
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HPE is a form of cerebral palsy. Cerebral palsy (CP) is an umbrella term covering a group of nonprogressive, but often changing, motor impairment syndromes due to abnormalities of the brain caused in the early stages of development. The term means a weakness of cerebral (brain) origin. Because areas of the brain that control movement and posture do not develop correctly or are damaged, children are unable to move their muscles normally. While symptoms may range from mild to severe, the condition does not get worse as the child gets older, however, the problems may change over time (i.e. although the underlying brain abnormality does not change, management of the child’s motor disorder may become more challenging during growth spurts, puberty, etc.)

All types of CP are characterized by abnormal muscle tone (stiff/tight muscles or weak/floppy muscles), abnormal posture (slouched over), exaggerated reflexes, or problems with balance and coordination. There may be joint and bone deformities and contractures (permanently fixed, tight muscles and joints). Common symptoms may include spasticity, unsteady gait, walking with one foot or leg dragging, walking on the toes, a crouched gait, scissor walking (where the knees or legs come in) and decreased muscle mass. These children may also have trouble with upper extremity tasks such as writing, using scissors, or typing on a keyboard. Young children with cerebral palsy are often slow to roll over, sit, crawl, smile or walk.

There is no cure for cerebral palsy, however with treatment, most children can significantly improve their abilities. Treatment is usually symptomatic and focuses on helping the child to develop as many motor skills as possible or to learn how to compensate for the lack of them. Treatment may include therapy, medications, surgery, or special equipment:

  • Physical therapy enhances motor skills (such as sitting and walking), improves muscle strength and helps prevent contractures (shortening of muscles that limit joint movement).
  • Sometimes braces, splints or casts are used along with physical therapy to help prevent contractures and to improve function of the hands or legs.
  • If contractures are severe, surgery may be recommended to lengthen affected muscles or correct anatomical abnormalities.
  • There are many different medications that help to relax muscles and alleviate pain.
  • Occupational therapists work with the child on skills required for daily living, including feeding and dressing.
  • Children with speech problems work with a speech therapist.
  • Some children with motor disorders may benefit from special equipment including walkers, positioning devices (to allow a child with abnormal posture to stand correctly), customized wheelchairs, specially adapted scooters and tricycles.

Treatment can help many children improve their motor skills and ability to communicate with the world. In general, the earlier treatment begins the better chance children have of overcoming developmental disabilities or learning new ways to accomplish the tasks that challenge them. A number of children with HPE with severe spasticity and/or dystonia have benefited tremendously from botulinum toxin injections, oral baclofen or placement of intrathecal baclofen pumps. For treatment of dystonia, we have used oral trihexyphenidyl with some success, including improved oromotor and upper extremity function.
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