Friedrich's Ataxia:
Presentation:
- Cerebellar Syndrome= Ataxia/broad based gait+horozontal nystagmus+staccato speech+intention tremor
- Dorsal Column= Loss of vibration and proprioception+ Romberg test positive
- Pyramidal lesion= Spastic paraparesis/Upper limb exptensor weaker, so in flexed position+ Lower limb fexor weaker, so in extended position, Extensor Plantar
- Peripheral neuropathy= Absent ankle jerk, long term= Pes cavus=hereditary
- Others:
- Diabetes Mellitus
- Optic atrophy(bilateral)
- HOCM= Sacr mark=ICD
- High arched Palate = D/D MArfan's/Homocystinuria/Turner's/tuberous sclerosis = Ataxia absent
- peScavus+kyphoSCLOLIOSIS+Sensoryneural hearing loss
- Family history positive
Age of presentation:
- 10-15 years/below 30 years
- some late onset milder form is now detected, due to genetic test facility
Diagnosis:
- Confirmed by genetic test = GAA repeat ( upto 50 is normal, In FA, it can be >200, or even >1000)
- Autosomal Recessive+GAA repeat+ X25 gene+ Chromosome 9+Frataxin + No anticipation
- Frataxin= iron regulation in mitochondria, If frataxin absent, iron deposition in mitochondria
- ECG= T wave inversion+ LVH
- MRI= Shrinkage of cervical cord
- Nerve Conduction Study= Sensory amplitude low/absent, motor- normal
D/D:
- Hereditary Sensori-motor Neuropathy= Ataxia absent
- Tabes dorsalis= Argyll robertson pupil present
Treatment:
- Multi Disciplinary aprroach:
- Neurologist+Cerdiologist+Endocrinologist+ Physiotherapist+Occupational therapist+ Orthopedic surgeon+genetic counselor
- 2E+2A+2O
- Education= genetic advice
- Exercise and physiotherapy
- Aid=walking+visual+hearing
- Ankle support=orthoses
- Occupational therapy
- Orthopedic surgery= to correct pes cavus+ kyphoscoliosis
- Endocrinology= DM management
- Cardiology= HOCM management
Prognosis:
- Progress variable
- Unable to walk/ wheel chair bound: after 15 years of onset
- Leg weakness→Wheel chair bound→Arm weakness
Causes of absent ankle jerk and extesor plantar:
- CVD with peripheral neuropathy( DM)
- Cervical myelopathy with peripheral neuropathy
- Cervical and lumbar spondylosis
- Conus medularis lesion
- Freidrich's Ataxia
- Subacute combined degeneration of spinal cord
- Taboparesis
- Motor neuron disease
Early onset recessive ataxia :
- Freidrich's ataxia
- Ataxic Telangiectasia
- Abetalipoproteinemia
- Refsum's disease
No comments