Is a genetic inherited disorder that causes progressive damage to the nervous system resulting in symptoms ranging from muscle weakness and speech problems to heart disease.
An inherited disease characterized by gait disturbance, clumsiness, and weakness of the lower extremities.
An inherited nervous disease which affects the spinal cord and is associated with club foot, an unsteady walk and speech difficulties.
Friedreich ataxia is one of a set of inherited diseases resulting in degeneration of the spine and cerebellum. Friedreich ataxia is the most common of the hereditary ataxias, with an estimated incidence of 1 in 20,000 and a prevalence of 1 in 50,000 people. It is inherited in an autosomal recessive pattern, and the carrier rate, based on molecular data, is estimated at 1:60-1:90. The incidence of the disease in Asians and in those of African descent is low. It affects males and females equally.
Abnormal condition marked by muscular weakness, loss of muscular control, and an abnormal gait, usually beginning between the ages of 5 and 20, progressing to affect the upper extremities, and leading to severe disability and often death.
Also known as spinocerebellar degeneration, an inherited disease characterized by progressive dysfunction of the cerebellum, spinal cord, and peripheral nerves. Friedreich ataxia is the most common form of inherited ataxia; hereditary ataxias are a group of diseases affecting the nervous system and consequent problems with balance, gait, movement, and speech.
Also known as spinocerebellar degeneration, an inherited disease characterized by progressive dysfunction of the cerebellum, spinal cord, and peripheral nerves. Friedreich ataxia is the most common form of inherited ataxia; hereditary ataxias are a group of diseases affecting the nervous system and consequent problems with balance, gait, movement, and speech.
A hereditary disease resembling locomotor ataxia, and due to degenerative changes in nerve tracts and nerve cells of the spinal cord and the brain. It usually occurs in young people and often affects brothers and sisters. Its chief symptoms are unsteadiness of gait, with loss of the knee jerks, followed later by difficulties of speech, tremors of the hands, head and eyes, deformity of the feet, and curvature of the spine. There is often associated heart disease. The sufferer gradually gets worse, but may live, with increasing disability, for 20-30 years.
An inherited degenerative disease with sclerosis of the dorsal and lateral columns of the spinal cord. It is accompanied by muscular uncoordination, speech impairment, lateral curvature of the spinal column, with muscle paralysis, especially of the lower extremities. The onset is in childhood or early adolescence.
This is a rare genetic disorder characterized by the degeneration of nerve fibers in the spinal cord, leading to the loss of coordinated movement and balance.
Symptoms of this condition typically manifest between the ages of five and 15 years. Early indicators include walking difficulties and deformities in the lower legs and feet, such as claw-foot. Over time, the difficulty in movement extends to the arms and trunk. As the disease progresses, the symptoms worsen, leading to muscle weakness and atrophy. Gradually, there is a loss of sensation in the extremities, which may eventually spread to other parts of the body. Speech may become slow and slurred, and involuntary, jerky eye movements (nystagmus) are commonly observed.
In addition to the aforementioned symptoms, individuals with Friedreich’s ataxia may experience chest pain, shortness of breath, and palpitations. This condition often leads to heart-related issues like cardiomyopathy (a heart muscle disease) and irregularities in heart rhythm.
While treatment can alleviate the symptoms of the disease, it cannot change the disease’s progression. Braces or surgery may be employed to correct deformities, physiotherapy can aid in preserving movement for as long as feasible, and medications may be prescribed for heart-related issues. However, it is important to note that most individuals affected by this condition typically pass away during early adulthood.