Friedreich's ataxia is a rare, autosomal recessive disorder characterized by progressive damage to the nervous system, leading to gait disturbances, speech issues, and potential heart disease and diabetes, with an incidence of 1 in 50,000. The condition is caused by mutations in the fxn gene, resulting in reduced production of the protein frataxin, essential for mitochondrial function, while the length of a specific GAA trinucleotide repeat in the gene correlates with symptom onset and severity. Diagnosis often involves physical examinations, reflex tests, and genetic testing, with treatment requiring a multidisciplinary approach including medications, physiotherapy, and management of complications.

1. FRIEDREICH ATAXIA.
PRANAV THAZHE VEETTIL KARKKADAYIL
GROUP NO,4
DEPT OF CHILD NUEROLOGY
TSMU

2. WHAT IS ATAXIA?
Ataxia = A (lack of)
Taxia (coordination)

3. WHAT IS FRIEDREICH'S ATAXIA ?
 Its an Autosomal Recessive Inherited Disease that
causes Progressive damage to the nervous system
,resulting in symptoms ranging from gait
diaturbances to speech problems,,It can lead to
Heart disease and diabetes

4.  First described by Germen physician Nikolus
Friedreich in the 1860s
Incidence 1:50,000
Onset before age 20-25year

5. GENETICS
 Mutations in the FXN gene cause Friedreich ataxia.
This gene provides instructions for making a protein
called frataxin. Although its role is not fully
understood, frataxin is important for the normal
function of mitochondria,
 the energy-producing centers within cells. One
region of the FXN gene contains a segment of DNA
known as a GAA trinucleotide repeat.

6.  In people with Friedreich ataxia, the GAA segment
is repeated 66 to more than 1,000 times. The length
of the GAA trinucleotide repeat appears to be
related to the age at which the symptoms of
Friedreich ataxia appear, how severe they are, and
how quickly they progress. People with GAA
segments repeated fewer than 300 times tend to
have a later appearance of symptoms (after age
25) than those with larger GAA trinucleotide
repeats.

7.  The abnormally long GAA trinucleotide repeat
disrupts the production of frataxin, which severely
reduces the amount of this protein in cells. Certain
nerve and muscle cells cannot function properly
with a shortage of frataxin, leading to the
characteristic signs and symptoms of Friedreich
ataxia.

8. PATHOLOGY
 Primary site of pathology is Spinal cord and
peripheral Nerves
 Degeneration of nerve tissue in the spinal cord,
In particular sensory nuerons essential(through
connections with the cerebellum) for directing
muscle movement of the arms and legs
The spinal cord becomes thinner and nerve cells lose
of their myelin sheath

9. SIGNS AND SYMPTOMS
 dysarthria,
 muscle weakness,
 spasticity particularly in the lower limbs, scoliosis,
 bladder dysfunction,
 absent lower limb reflexes, and loss of position and
vibration sense
 Diabetes (about 20% of people with friedrich ataxia
develop carbohydrate intolerance and 10% of
Diabetes Mellitus
 Heart disorder (Atrial Fibrillation,Cardiomyopathy
,Tachycardia

10. DIAGNOSIS
 Typically, diagnosis begins with a basic physical
exam and a careful assessment of personal and
family history.
 During the physical exam, the neurologist is likely to
devote special time and attention to testing
reflexes, including the knee-jerk reflex. Loss of
reflexes occurs in most people with FA.
Tests for frataxin mutations are highly reliable and
can be used to confirm or exclude a diagnosis of FA
in almost all cases.

11.  Electromyography (EMG) is done by inserting a
needlelike electrode into a muscle and recording
the electrical signals it generates during contraction
 A computerized tomography (CT scan) or magnetic
resonance imaging (MRI) might be performed to
look for extensive changes in the cerebellum, which
are more common in spinocerebellar ataxias than in
FA.nerve conduction velocity test (NCV)

12. DIFFERENTIAL DIAGNOSIS
 VITAMIN E DEFICIENCY
 PARANEOPLASTIC DISORDERS
 METABOLIC AND IMMUNE DISORDERS
 MULTIPLE SCLEROSIS

13. TREATMENT’
 FA is a disease with multisystem involvement
so multidisciplinary action is needed
This should include
NEUROLOGIST
GENETICIST AND GENETIC COUNSELLOR
PHYSIOTHERAPISTS
SPEECH AND LANGAUGE THERAPISITS AND
ALSO CARDIOLOGIST,ORTHOPAEDICS

14. TREATMENT
 DRUG THERAPY:
1) IDEBENONE:
short chain quinine analogue
act as potent antioxidant and electron
carrier
2)Deferiprone
3)Erythropoietin,pioglitazone
SUPPORTIVE THERAPY
Physiotherapy and mobility aids
treatment for cardiac failure
orthopedic surgery (scoliosis),Diabetics etc

15. FA ,AWARENESS DAY IS ON MAY 20