TRPM3related conditions can affect people in many different ways. They mainly impact brain development, but they can also affect the eyes and the bones or muscles. Not everyone with a TRPM3change has the same symptoms, and the severity can vary a lot from person to person.
One of the most common features is developmental delay. Many children learn to sit, walk, or talk later than expected. Some have learning disabilities that can range from mild to severe. Speech is often especially affected—many children speak very late, and some do not develop spoken language. Low muscle tone (hypotonia) is also common and can make movement more difficult. About half of affected individuals are unable to walk on their own.
Epilepsy is seen in most people with TRPM3related disorders. Seizures often begin in early childhood, but the age of onset can vary widely—from the first months of life up to about 7 years old. The types of seizures may differ, but many children have absence seizures or generalized tonic clonic seizures. In rare cases, seizures may be the only symptom.
Other neurological or behavioural features may include cerebral palsy–like motor difficulties, autism related traits, aggressive behaviour, sleep problems, unusual sensitivity to heat, or reduced sensitivity to pain. Eye problems are also fairly common. These may include crossed eyes (strabismus) or involuntary eye movements (nystagmus). About half of affected individuals also have abnormalities in their bones or joints, such as hip problems (hip dysplasia), curvature of the spine (scoliosis), or foot deformities. Some children also have mild facial differences, such as a broad forehead, a shorter space between the nose and upper lip, or a small lower jaw.
TRPM3