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Friedreich's Ataxia

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Background What Causes Friedreich’s Ataxia? Inheritance Friedreich Ataxia Treatment & Management Diagnosed Treatment

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FRIEDREICH ATAXIA. PRANAV THAZHE VEETTIL KARKKADAYIL GROUP NO,4 DEPT OF CHILD NUEROLOGY TSMU
WHAT IS ATAXIA? Ataxia = A (lack of) Taxia (coordination)
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
 First described by Germen physician Nikolus Friedreich in the 1860s Incidence 1:50,000 Onset before age 20-25year
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.
 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.
 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.
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
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
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.
 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)
DIFFERENTIAL DIAGNOSIS  VITAMIN E DEFICIENCY  PARANEOPLASTIC DISORDERS  METABOLIC AND IMMUNE DISORDERS  MULTIPLE SCLEROSIS
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
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
FA ,AWARENESS DAY IS ON MAY 20
Friedreich's Ataxia
Friedreich's Ataxia

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Friedreich's Ataxia

  • 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