Friedreich Ataxia Mutation Analysis in Pune

Ataxia, in general, translates to "without coordination." It is a locomotive disorder that refers to poor muscle control and results in difficulty while walking and maintaining balance. This happens due to atrophy or loss of the nerve cells. The patient has trouble moving their arms and legs at will.

There have been reports of 50 to 100 different types of Ataxia. The most prominent ones among them include:

• Dominant spastic Ataxia
• Episodic Ataxia
• Recessive spastic Ataxia 
• Dominant spinocerebellar Ataxia (SCA)
• Oculomotor Ataxia 
• Friedreich’s Ataxia(FRDA)
• Wilson’s disease

Friedreich Ataxia Mutation or FRDA is the most common type of autosomal recessive hereditary Ataxia. The cause of this recessive neurodegenerative disorder is an unstable growth of the GAA triplet (trinucleotide) in the frataxin (FXN) gene.

This gene commonly exists in chromosome 9q13-q21.1.3 in the mitochondria. Common symptoms of the condition include:

• Muscle stiffness or spasticity 
• Impaired speech 
• Impaired vision
• Impaired hearing 
• Loss of strength in arms and legs
• Gradual loss of sensation 
• Scoliosis or abnormal curvature of the spine

Most patients with the genetic condition may start noticing symptoms between the age of 5 and 15. In some cases, an atypical form of the disease develops between the age of 26 and 39.

The noticeable primary symptom is poor locomotive coordination and imbalance. Patients often require a wheelchair to move if they have suffered from the visible signs for ten years. It is often referred to as Friedreich spinocerebellar Ataxia or Fanconi Anemia (FA).

The Friedreich Ataxia Mutation Analysis test helps in screening the disorders. Three types of diagnosis aid in detecting Friedrich’s Ataxia, short and long PCR and southern blot. Moreover, triplet repeat primed polymerase chain reaction or TP-PCR method can also help diagnose the problem.

The healthcare provider may recommend the test after visible symptoms or their repetitive occurrence. A phlebotomist will collect the blood sample from the patient using the venipuncture method.

Apollo 24|7 offers an affordable and comprehensive Friedreich Ataxia Mutation Analysis test, which can be booked through their website.

Although no permanent treatment is available for the mutation in the FXN gene, one can take preemptive measures. Depending on the results, the doctor may prescribe genetic counselling and screening. During pregnancy, it can help the mothers as well. The disease symptoms can aggravate during pregnancy.

The Friedreich Ataxia Mutation Analysis Test is performed to identify the number of GAA repeats in the FXN gene. The testing method involves:

• Trinucleotide repeat expansion: This is the most popular testing method for Friedreich Ataxia mutation. The diseased person usually has 600-1200 GAA repeats. 
• Sequencing: Initial testing can only detect one GAA expansion in 4% of people with Friedreich Ataxia. FXN gene sequencing can help identify the mutation more effectively. This method better detects more minor nucleotide deletions and insertions. 
• Deletion/Duplication analysis: This testing method detects single or multi-exon deletions or duplication of the FXN gene. This may be a rare circumstance, but methods like exon array, MLPA, and NGS data analysis can detect it.