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Friedreich's Ataxia Treatment

In suspected cases of Friedreich’s ataxia, a detailed medical evaluation is performed to assess the patient and rule out other conditions with similar symptoms. Usually, the treatment of this condition involves a multidisciplinary team of healthcare professionals which may include a neurologist, radiologist, surgeon, nurse, speech and language therapist, physiotherapist, cardiologist, ophthalmologist, orthopedic surgeon, urologist, endocrinologist, counsellor and a nutritionist or dietician.

23 Nov 2009

Friedreich's Ataxia Symptoms

Friedreich’s ataxia is a hereditary disorder that leads to progressive and irreversible damage to the nervous system.

23 Nov 2009

Friedreich's Ataxia Genetics

Friedreich’s ataxia is a genetic disorder that gradually causes increasing damage to the nervous system. Symptoms vary depending on the stage and severity of the disease but range from difficulty with speech and coordination through to curvature of the spine and cardiac problems.

23 Nov 2009

Fanconi Anemia Hematological Abnormalities

Fanconi anemia is associated with bone marrow dysfunction, which may range from mild depression of the bone marrow through to severe suppression causing aplastic anemia, myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML).

23 Nov 2009

Molecular Basis of Fanconi Anemia

Fanconi anemia is a genetic condition that is inherited in an autosomal recessive manner. This rare disorder affects around 1000 individuals worldwide. To date, sixteen genes have been associated with the condition and these include...

23 Nov 2009

Fanconi Anemia Prognosis

Fanconi anemia is a genetic condition that affects DNA repair enzymes and therefore many parts of the body.

23 Nov 2009

Fanconi Anemia Treatment

Fanconi anemia is a genetic disease that affects DNA repair enzymes and predisposes to cancer.

23 Nov 2009

What is Fanconi Anemia?

Fanconi anemia is a genetic condition that affects DNA repair enzymes, which predisposes affected individuals to cancer.

23 Nov 2009

Marfan Syndrome Treatment

As there is currently no cure available for Marfan syndrome, the aim of treatment is to manage the symptoms and reduce the risk of complications.

23 Nov 2009

Marfan Syndrome Diagnosis

The presenting symptoms of Marfan syndrome can be highly variable and, as a result, the diagnosis of the condition can be difficult.

23 Nov 2009

Marfan Syndrome Symptoms

Marfan syndrome affects many organs and systems in the body, and the severity of the symptoms can vary significantly among different patients.

23 Nov 2009

What is Marfan Syndrome?

Marfan syndrome occurs in approximately 1 in every 5000 individuals. It is an autosomal dominant disorder therefore the majority of people with Marfan syndrome have a 50% chance of inheriting the defective gene from whichever parent who suffers from the disorder. Alternatively, in approximately 25-30% of those with Marfan syndrome the condition has developed due to a spontaneous mutation yielding the defective gene.

23 Nov 2009

Thalassemia Benefits

Thalassemia is a genetic blood disorder that is associated with a reduction in haemoglobin in red blood cells and, subsequently, insufficient oxygen reaching cells in the body. However, individuals with this condition may actually be at an advantage when it comes to certain diseases, such as malaria, as it may offer a protective effect.

23 Nov 2009

Thalassemia Treatment

The treatment for thalassemia, a group of hereditary blood conditions, can vary greatly according to the individual circumstances and the presenting symptoms.

23 Nov 2009

Thalassemia Genetic Prevalence

Thalassemia is a genetic disorder that is due to mutations of the genes that are responsible for the production of hemoglobin in the blood.

23 Nov 2009

Thalassemia Pathophysiology

Thalassemia is a blood disorder that is caused by DNA mutations in cells that are responsible for producing hemoglobin. Read more here.

23 Nov 2009

Thalassemia Prevalence

Thalassemia affects approximately 4.4 of every 10,000 live births throughout the world.

23 Nov 2009

What is Thalassemia?

Beta thalassemia describes a condition of the blood characterized by abnormal hemoglobin in the red blood cells. This abnormal hemoglobin is reduced in its capacity to transport oxygen around the body, which leads to anemia, fatigue, weakness and shortness of breath.

23 Nov 2009

Celiac Disease Screening

First degree relatives like parents, offspring and siblings are genetically at a higher risk of developing celiac disease. Second degree relatives are less so.

23 Nov 2009