why Not many people have heard of Friedreich s ataxia (FA), a neuro-muscular disease that affects one ?
Friedreich’s ataxia is an inherited disease that causes progressive damage to the nervous system resulting in symptoms ranging from gait disturbance and speech problems to heart disease. Generally, ataxia is a symptom of coordination problems such as clumsy or awkward movements and unsteadiness and occurs in many different diseases and conditions. The ataxia of Friedreich’s ataxia results from the degeneration of nerve tissue in the spinal cord, in particular sensory neurons essential (through connections with the cerebellum) for directing muscle movement of the arms and legs. The spinal cord becomes thinner and nerve cells lose some of their myelin sheath (the insular covering on some nerve cells that helps conduct nerve impulses).
Friedreichs Ataxia Inherited nervous system disorder By Mary Kugler, R.N., About.com Created: March 2, 2007 Friedreich’s ataxia is an inherited genetic disorder of chromosome 9. It is a slowly progressive disorder of the nervous system and muscles, and results in the inability to control voluntary muscles (ataxia). It is inherited in an autosomal recessive manner, meaning that a child must inherit a copy of the defective gene from each parent in order to develop the disorder. Friedreich’s ataxia affects both males and females. About 1 in 90 people of European ancestry carries the gene for the disorder. Symptoms The symptoms of Friedreich’s ataxia usually begin between the ages of 5 and 15 years old, but it may start as early as infancy or as late as 30 years old. Typical symptoms include: * muscle weakness in the legs, unsteadiness when standing, and difficulty walking * loss of coordination (ataxia) in the arms and legs * loss of sensation
First described by German physician Nikolaus Friedreich in 1863, Friedreich’s ataxia (FA) is a rare disease that mainly affects the nervous system and the heart. Its major neurological symptoms include muscle weakness and, of course, ataxia, a loss of balance and coordination. It doesn’t affect parts of the brain involved in thinking. Its effects on the heart range from mild, nonsymptomatic abnormalities to life-threatening problems in the heart’s musculature.FA isn’t caused by anything a person does, and it’s not contagious. It’s a hereditary disease, caused by a defective gene that can be passed down through a family from one generation to the next. Worldwide, FA affects about one in 50,000 people, making it the most common in a group of related disorders called hereditary ataxias. It shouldn’t be confused with spinocerebellar ataxia, which refers to several other distinct types of hereditary ataxia. There’s no cure for FA, but there are treatments for its cardiac symptoms and ways t
Friedreich’s ataxia is an inherited disease that causes progressive damage to the nervous system resulting in symptoms ranging from gait disturbance and speech problems to heart disease. Generally, ataxia is a symptom of coordination problems such as clumsy or awkward movements and unsteadiness and occurs in many different diseases and conditions. The ataxia of Friedreich’s ataxia results from the degeneration of nerve tissue in the spinal cord, in particular sensory neurons essential (through connections with the cerebellum) for directing muscle movement of the arms and legs. The spinal cord becomes thinner and nerve cells lose some of their myelin sheath (the insular covering on some nerve cells that helps conduct nerve impulses). Contents [hide] Sources: http://en.wikipedia.
Friedreichs Ataxia Inherited nervous system disorder By Mary Kugler, R.N., About.com Created: March 2, 2007 Friedreich’s ataxia is an inherited genetic disorder of chromosome 9. It is a slowly progressive disorder of the nervous system and muscles, and results in the inability to control voluntary muscles (ataxia). It is inherited in an autosomal recessive manner, meaning that a child must inherit a copy of the defective gene from each parent in order to develop the disorder. Friedreich’s ataxia affects both males and females. About 1 in 90 people of European ancestry carries the gene for the disorder. Symptoms The symptoms of Friedreich’s ataxia usually begin between the ages of 5 and 15 years old, but it may start as early as infancy or as late as 30 years old. Typical symptoms include: * muscle weakness in the legs, unsteadiness when standing, and difficulty walking * loss of coordination (ataxia) in the arms and legs * loss of sensation
