Serious Warning Signs Of A Biotinidase Deficiency

Ataxia

Ataxia refers to difficulties with balance and coordination, and it can manifest differently in each patient. Children who have started walking may walk with a gait that veers off to one side; the child may also walk backward, sway, or stop and start while trying to walk. This disorder can also include slurred speech, and patients may develop hand tremors. There may be abnormalities in eye movement patterns, and fine motor skills may deteriorate. Some patients may also experience heart problems. To evaluate the severity of these symptoms, doctors will check the patient's gait, and they will also test the patient's reflexes, grip strength, and range of motion. Specific tests to detect tremors will be used, and the doctor will also evaluate the patient's eye movements. These symptoms usually improve with proper treatment for biotinidase deficiency, and patients may also have speech, occupational, and physical therapy. These therapies help patients walk in a more balanced way and speak more easily. Parents of children with a biotinidase deficiency should monitor their child closely for signs of new or worsening balance, tremors, or coordination difficulties, and these should be mentioned to the child's pediatrician or neurologist as soon as possible.

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