Author Archives: Brian Murphy, Ph.D.

Prevalence of Sanfilippo Syndrome Across Countries

Sanfilippo syndrome’s prevalence — the estimate of how common a disease is in a specific population — varies between geographic areas around the world. There also is variation between the different subtypes of the disease across geographic locations. The following gives information about various Sanfilippo prevalence rates,…

Subtypes of Sanfilippo Syndrome

Sanfilippo syndrome is a progressive genetic disorder marked by continual damage to brain cells and early death. There are four subtypes of Sanfilippo, each caused by a specific genetic mutation that corresponds to a lack of a given enzyme’s activity. What are the subtypes? The type of Sanfilippo syndrome…

Speech Therapy for Sanfilippo Syndrome

Sanfilippo syndrome is a rare genetic disorder related to the metabolism of a large sugar molecule called heparan sulfate. The buildup of heparan sulfate causes damage to the brain and spinal cord. The damage leads to developmental delays including speech impairment. Speech therapy may help some patients living with…

Sanfilippo Syndrome and Scoliosis

Sanfilippo syndrome, also known as mucopolysaccharidosis type III, can lead to issues with the bones and joints, including a condition known as scoliosis. What is scoliosis? Scoliosis is a condition where the spine curves to the side. It can happen during a child’s growth phase and should be…

Sanfilippo Syndrome and Anesthesia

Sanfilippo syndrome patients sometimes need to undergo procedures that require anesthesia. Following is information about anesthesia, including  possible risks and precautions that can be taken. What is anesthesia? Anesthesia is the use of medications to prevent pain during medical procedures such as surgery. There are four main types of…

Hip Surgery for Sanfilippo Syndrome

Patients with Sanfilippo syndrome may experience hip pain. There are several factors that can cause this. In some instances, hip surgery may be needed. The following will give you some idea of why surgery may be necessary and what it may involve. Why might hip surgery be necessary?…

Feeding Tips for Children With Sanfilippo Syndrome

Disabilities due to Sanfilippo syndrome can lead to challenges with eating and drinking that can make feeding patients difficult. The rare genetic disorder, also known as mucopolysaccharidosis type III (MPS III), results in an accumulation of complex sugar molecules called glycosaminoglycans (GAGs), or mucopolysaccharides. This accumulation can cause some…

Hydrotherapy for Sanfilippo Syndrome

Patients with Sanfillipo syndrome can develop muscle weakness as well as joint stiffness and pain as they age. Physiotherapy can help improve muscle strength and flexibility. Research also has shown that physiotherapy involving water (hydrotherapy) can help children…