Coffin Lowry syndrome is a genetic condition caused by a mutation in a certain gene. In 80% of cases there is no family history of the condition. This gene is on the X chromosome and seems to present more in males than females. It is currently estimated that 1 in 40,000 have this disease. Males present with severe intellectual disability and stunted development while women have mild to moderate intellectual disabilities. Distinctive facial features including: prominent forehead, downward slanting eyes, short nose, and wide mouth are usually the first signs of the disease. Another common characteristic is the presence of stimulus-induced drop episodes (SIDEs) that cause fainting with loud noises or touching. Many people with this condition also suffer from musculoskeletal problems such as:
- Hand and foot deformities
Physical therapy can help to treat these issues as well as balance, transfers to and from bed, and walking can all be addressed and corrected. Common treatments include stretching tight muscles, strengthening weak muscles, finding a proper assistive device, cardio (to improve function of the heart and lungs), and practicing walking in a safe environment.
We treat Coffin Lowry Syndrome in the 34711 area!