Walker-Warburg syndrome (WWS) is an autosomal recessive disorder that affects the proper development of the muscles, brain, and eyes. WWS may be caused by mutations in 14 different genes including POMT1, POMT2, CRPPA, FKTN, FKRP, and LARGE1.
Patients with WWS have malformations in the brain that can result in seizures. Anticonvulsants, also known as antiepileptics, are medications that are used to control seizures.
Hydrocephalus, or fluid build-up in the brain, is often observed in children with WWS. Hydrocephalus can be treated by a surgical procedure called shunting. In shunting, a catheter or a flexible tube is inserted into the brain to drain excess fluid. The shunt has a valve that controls the flow of fluid. While shunting can last for many years, it does not last forever. So, the child eventually must undergo another surgery to replace the shunt.
Some children with WWS also may have a rare defect called encephalocele. In encephalocele, the neural tube or the channel that forms the brain and spinal cord in the developing fetus, does not close completely, resulting in an opening in the skull through which the brain projects out. Encephalocele can be corrected to an extent by surgery, but the neurological problems may persist and multiple surgeries may be needed.
Physical therapy may help patients who have disorders such as muscular dystrophy to maintain mobility and reduce pain during movement.
Physical therapy also may help prevent the worsening of contractures. A contracture is any change that causes loss of flexibility or movement in muscles, tendons, ligaments, and joints.
There is no data to qualify the benefits of physiotherapy in WWS, but a 2013 survey of muscular dystrophy clinical trials since 1978 showed that physiotherapy did help improve outcomes in muscular dystrophy patients.
There are no drug-related clinical trials specifically for WWS at the moment. However, two observational studies are currently underway to collect information and accelerate future clinical trials.
The global FKRP patient registry (NCT04001595) is a questionnaire-based research study to characterize and understand WWS on a global level. It also will help researchers identify potential participants for future clinical trials. Data collection is estimated to be completed in December 2020.
The CMDPROS study (NCT01403402) is a 10-year observational study with the aim of identifying care parameters and adverse side effects in patients with congenital muscular dystrophies such as WWS. CMDPROS is expected to complete data collection in September 2019.
Last updated: Aug. 26, 2019
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