How to Spot Symptoms of Friedreich'S Ataxia

Friedreich’s ataxia or familial ataxia is a genetic disorder that is caused by degeneration of the nerve structures in the spinal cord and those that control muscular movements of the upper and lower extremities. Damage in the spinal structures and the nerve vessels will eventually damage the areas of the brain and spinal cord that control muscular movements, balance and coordination, and certain sensory functions. Friedreich’s ataxia is prevalent among white populations. Symptoms typically appear among children ranging from 5 to 15 years of age; but there are cases where it appears as early as 18 months old or as late as age 30. Read on below to identify the symptoms of Friedrich’s ataxia.

Instructions

• 1

  Observe a clumsy way of walking. Due to a progressive weakness of the lower extremities, the patient usually exhibits difficulty in walking. The gait appears to be unsteady and the patient tends to walk with a wide-based gait to compensate his poor balance. As a result of having a staggering gait, falls frequently occur. This symptom usually gets worse over time.

• 2

  Look at the way the patient maintains his posture while standing or sitting. As a result of a reduced coordination of the leg muscles, even standing still or sitting is a challenge for patients. Trembling of leg muscles are often seen, especially when they are trying so hard to control the movement of their muscles to keep their stance in a proper position.

• 3

  Find out if the patient’s reflexes are still intact. Absence of tendon reflexes in the knees and ankles are common secondary to an impaired transmission of nerve impulses. The ability of the lower extremities to detect vibrations is also affected.

• 4

  Notice some existing deformities. As degeneration of spinal cord and nerves worsens over time, deformities develop such as clubfoot (in which toes are twisted out of shape) and hammertoes (in which toes on both feet are deformed in a claw like manner and are more prominent on the second toes). Such deformities will soon affect the larger joints of the feet, legs, hands, arms and trunk, as the severity of the condition increases.

• 5

  Check the patient's overall sensation. Gradual loss of sensation is typical. The patient may initially feel numbness along his extremities and then later on, his sense of touch and reaction to pain and temperature will slowly become defective. This will spread from the extremities to other parts of the body in later time.

• 6

  Ask if the patient frequently feels tired. Excessive fatigue is common and is mostly due to the fact that patients usually exert an extra effort in moving their muscles in a proper manner. They concentrate so much it wears their strength down, and makes them feel weak most of the time.

• 7

  Listen to how the patient talks and observe carefully when he swallows food or drinks. The way of talking is usually slurred, and when he swallows food or drinks, he usually chokes or coughs.

• 8

  See if the spine appears normal. Most individuals with Friedreich’s ataxia develop scoliosis, where the spine may begin to curve to one side. When this symptom worsens it restricts respiratory functions that will impair the ability to breath.

• 9

  Watch for vision and hearing problems. Nystagmus may be observed in which there is an involuntary rapid side to side movement of the eyeballs that occurs normally with dizziness. Deafness is also noted in some cases and is associated with vertigo--the patient feels like his surroundings are whirling.

• 10

  Check for other symptoms like pain in the chest, shortness of breath (dyspnea), and heart palpitations. These are serious signs of various heart conditions that may accompany Friedrich’s ataxia. It may include: cardiomyopathy (hypertrophy of heart muscles causing enlargement of the heart), myocardial fibrosis (formation of fibrous tissues along the heart muscles), myocarditis (inflammation of the middle muscular layer in the walls of the heart), tachycardia (which refers to a relatively rapid action of the heart) and progressive heart failure. Most cases of death is due to a development of congestive heart failure.