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Physiotherapy Neurology Brain Genetic

Brain

Huntington disease

Progressive supranuclear palsy

Brain and spinal cord

Tay-Sachs disease (late onset)

Kennedys disease

 

Huntington Disease

Inherited disease that result death of brain cells. FHx

SSx – 30 -50 y o

early signs – personality, cognition, mood

later – chorea (jerky, random movement)

Dx – genetic test (even embrio)

Provision of physical activity for people with Huntington's ...

Huntington's Disease | Spectrum Health

 

Pathology of CNS Degenerations Lecture

 

Progressive supranuclear palsy

degenerative disease involving death of specific volume of the brain due to accumulation of tau protein

SSx – balance, slow movement, dementia, difficulties moving eyes

O – 60 – 70 y o

DDx – Alzheimer, Parkinson

– supranuclear – no vertical eye movements

Progressive Supranuclear Palsy - Parkinson Disease

Atypical Parkinsonian Syndromes | Neupsy Key

Robbins Alzheimers Dementia Toma 2006

Progressive supranuclear palsy: where are we now? - The Lancet ...

 

Kennedy’s Disease

AKA spinal and bulbar muscular atrophy

Genetic degeneration of motor neurons in brain (stem) and spinal cord

Bulbar Sx – swallowing, speach, throat

LMN Sx – +ve Babinski and decreased DTR

X-linked spinal and bulbar muscular atrophy (Kennedy's disease ...

Marked bilateral tongue and hand wasting in Kennedy's disease. The ...

 

Tay-Sachs disease (late onset)

Genetic disorder that result destruction of nerve cells in brain and spinal cord

  • usually onset 3-6 month old – death at 4 y o
  • late onset (juvenile). SSx – seisures, hearing loss, inability to move. death at 15

Tay-Sachs (Worst Disease Ever!): cells, death, death , disease ...

tay sachs disease | Medical Pictures Info - Health Definitions Photos