Ataxia is a family of neurological conditions which share the primary symptom of severely uncoordinated movement. Symptoms can also include slurred speech and difficulties eating and swallowing.
Ataxia has many root causes and occurs when the brain’s cerebellum begins to degenerate. The cerebellum, located near the base of the skull, is sometimes called the “second brain,” due to its resemblance to the cerebrum, the primary structure of the brain. It is the center of unconscious coordination and allows us to learn to walk in a balanced and coordinated way, to run, to eat with utensils and perform all manner of everyday movement.The condition can be acquired through viruses, develop congenitally, or result from a traumatic event or genetic condition.
In children, ataxia is very rare. The diseases and conditions which cause it are myriad, including cerebral palsy, multiple sclerosis, and stroke. Addressing the underlying condition is the first step to recovery, which is dependent upon the level of damage done to the cerebellar-spinal area. In some cases, it is temporary (as in some post-infectious cases), but even in those, children will usually require physical therapy to recover their coordination.
Types of Ataxia:
- Post-infection, Post-Trauma, and Other Acquired Ataxias
Pediatric ataxia is most commonly a result of infection or injury to the brain, causing damage to the cerebellum or sensory pathways of the spinal cord that allow a person to sense themselves in space (proprioception). Stoke, traumatic brain injury, tumors, vitamin deficiencies (e.g. folate), poisoning (e.g. lead, alcohol, some anti-seizure medications), and infections (e.g., chicken pox, Coxsackie virus, influenza, and Epstein-Barr viruses) are the most common causes of acquired ataxia in children. Ataxias that are caused by infection and injury generally have a sudden, acute onset, but progression can often be arrested. In many cases ataxic symptoms may disappear with treatment of the underlying disease.
- Congenital Ataxias
Some ataxias are the result of problems during prenatal development. Chiari malformations, Dandy-Walker syndrome, and encephalocele are three of the most common congenital ataxias. While these ataxias are present at birth and chronic, they are not progressively degenerative.
- Hereditary Ataxias
Genetic disorders may also cause ataxia. Ataxia telangiectasia and Friedreich’s ataxia are chronic and progressively degenerative diseases caused by two different recessive gene mutations, meaning that a child must inherit the gene from both parents for it to cause the disease.
- Friedreich’s ataxia is the most common inherited type of ataxia and affects 1 in 30,000 children. A gene mutation in Friedreich’s ataxia causes damage to mitochondria, the organelles which provide energy to cells. Friedreich’s ataxia appears late in childhood, usually between the ages of 5 to 15. While Friedreich’s ataxia is a progressively degenerative disease, it does not typically affect mental ability. While research for drug therapies are active, rigorous physical therapy protocols are being developed that slow the loss of coordination and function. There is currently no cure.
- Ataxia Telangiectasia is a very rare disease that may affect as few as 1 in 100,000 children. The gene mutation that causes ataxia telangiectasia results in cells' failure to repair cellular DNA, creating a cascade of symptoms over time. Signs of ataxia telangiectasia may be noted as early as the stage when walking and standing begin to develop, and may often be misdiagnosed at that time as cerebral palsy. Children with ataxia telangiectasia have trouble standing and walking without assistance. Gross and fine motor movements, as well as the ability to control eye and vocal movement, deteriorate over time. Between ages 5 to 8 children may develop permanent “blood-shot eyes” and prominent small broken blood vessels on the face and neck--called telangiectasia. Over time, the immune system also begins to weaken. Mental abilities are sometimes negatively affected. Ataxia telangiectasia is definitively diagnosed with genetic testing to distinguish it from cerebral palsy and Friedrich's ataxia, which may be done after positive clinical exams and brain scans. Currently, no cure exists for ataxia telangiectasia. Most therapies focus on supportive care and symptomatic treatment, with specific treatment for related conditions.