TUBB3 syndrome is characterized by a range of neurological symptoms affecting development, motor skills, and eye movement.
Here's a breakdown of common symptoms associated with TUBB3 syndrome:
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Developmental Delays: Individuals with TUBB3 syndrome often experience delays in reaching developmental milestones, such as sitting, crawling, walking, and speaking.
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Limited Gross and/or Fine Motor Skills: Difficulties with coordination and muscle control can impact both gross motor skills (e.g., running, jumping) and fine motor skills (e.g., writing, buttoning clothes).
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Low Muscle Tone and Weakness (Hypotonia): Reduced muscle tone (hypotonia) is common, leading to floppiness and weakness, making it harder to control movements.
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Poor Balance: Difficulty maintaining balance contributes to challenges with walking and other motor activities.
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Eye Movement Disorders, Including CFEOM (Congenital Fibrosis of the Extraocular Muscles): CFEOM is a hallmark symptom, restricting eye movement and often causing a fixed gaze.
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Intellectual Disability: Varying degrees of intellectual disability can be present, affecting learning and cognitive abilities.
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Cyclic Vomiting Syndrome (CVS): Some individuals experience episodes of severe nausea and vomiting.
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Seizures or Epilepsy: Seizures can occur in some individuals with TUBB3 syndrome.
