Degenerative diseases

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Degenerative diseases

  1. 1. DEGENERATIVE DISEASES DR M SHOAIB SHAFI
  2. 2. DEGENERATIVE DISEASES • • • • • • • • • • Alzheimers disease Motor neuron disease Wernickes- korsakoff disease Parkinsonism Multiple system atrophy Progressive supranuclear palsy Wilsons disease Huntingtons disease Hereditary ataxias spinal muscular atrophies
  3. 3. ALZHEIMERS DISEASE • Most common cause of dementia, occuring mostly in patients over 45 years. • 15% cases are familial divided into 2 groups ie 1)Early onset: autosomal dominant 2)Later-onset: inheritance not so clear • Genetic abnormalities on several different chromosomes have been identified.
  4. 4. PATHOLOGY • MACROSCOPICALLY; brain is atrophic • • • particularly cerebral cortex & hippocampus. MICROSCOPY reveals senile plaques and neurofibrillary tangles in cerebral cortex. There is significant quantity of AMYLOID in the plaques. There are different neurotransmitter abnormalities especially in cholinergic transmission.
  5. 5. CLINICAL FEATURES • The key clinical feature is impairment of delayed • • • • recall ie inability to retrieve information acquired in the past. Both short term & long term memory are affected especially short term. Later apraxia, visuospatial impairment and aphasia develop. Anosogonosia depression
  6. 6. Investigations • No diagnostic lab test • Investigations can be done to rule out other • • • • • • causes Baseline labs CT / MRI brain TFTs Vitamin B12 levels EEG ANA / anti- ds DNA
  7. 7. TREATMENT • • • • • Conservative treatment Psychosocial support Antidepressants Anticholinestrases: Donepezil Rivastigmine Galantamine NMDA receptor antagonist MEMANTINE
  8. 8. DEFINITION • This is a progressive disorder of unknown cause in which there is degeneration of motor neurons in the spinal cord & cranial nerve nuclei, and of pyramidal neurons in the motor cortex. • French neurologist Jean Martin Charcot first described the term of MND in 1869. so also called as Maladie de charcot in France.
  9. 9. Description • Affects the nerves responsible for movement. The nerve cells gradually degenerate and cause the muscles to weaken and waste away.
  10. 10. PATHOLOLOGY • > 90% of the cases are sporadic. • 5 to 10 % are familial showing autosomal • dominant inheritance. The genetic defect lies on chromosome 21 and the enzyme involved is superoxide dismutase (SOD1) in about 20% of familial cases.
  11. 11. EPIDEMIOLOGY • The incidence of MND is approximately 1–5 out • • • • of 100,000 people. Men have a slightly higher incidence rate than women. Mostly presents in 4th or 5th decade. Cases under the age of 50 years are called "young onset MND“. Tentative environmental risk factors identified so far include: exposure to severe electrical shock leading to coma, having served in the first Gulf War, and playing professional football (soccer).
  12. 12. HOT-SPOTS OF MND • • • • • There are three "hot spots" of MND in the world. One is in the Kii peninsula of Japan, one amongst a tribal population in Papua New Guinea. Chamorro inhabitants from the island of Guam in the Pacific Ocean have an increased risk of developing a form of MND known as Guamanian ALS-PD-dementia complex or "lytico bodig“. Putative theories involve neurotoxins in the traditional diet including cycad nut flour and bats that have eaten cycad nuts.
  13. 13. PATHOPHYSIOLOGY • . On macroscopic pathology, there is a degeneration of • • the ventral horns of the spinal cord, as well as atrophy of the ventral roots. In the brain, atrophy may be present in the frontal and temporal lobes. On microscopic examination, neurones may show spongiosis, the presence of astrocytes, and a number of inclusions including characteristic "skein-like" inclusions, bunina bodies, and vacuolisation. There is a role in excitotoxicity and oxidative stress, presumably secondary to mitochondrial dysfunction. In animal models, death by apoptosis has also been identified.
  14. 14. CLINICAL FEATURES • • Usually there is a combination of upper & lower motor neuron features without sensory involvement. The presence of brisk reflexes in wasted fasciculating muscles is typical.
  15. 15. SYMPTOMS • • • • • • Limb muscle weakness Cramps Ataxia Difficulty in holding the objects Difficulty in speaking Difficulty in eating
  16. 16. SIGNS • Wasting & fasciculation of muscles • Weakness of muscles of limb, tongue, face and • • • palate Spasticity, exaggerated reflexes and extensor plantar response (pyramidal tract involvement) No sensory deficitextraocular muscles & sphincters remain intact till very late stages. No intellectual impairment or depression in most of the cases.
  17. 17. COURSE Symptoms usually begin focally in one part and spread gradually but relentlessly to become widespread.
  18. 18. VARIANTS OF MND • Forms of motor neuron disease include: amyotrophic lateral sclerosis (ALS) (sometimes called Lou Gehrig's disease) • primary lateral sclerosis (PLS) • progressive muscular atrophy (PMA) • Bulbar: – pseudobulbar palsy - spastic – progressive bulbar palsy - spastic and flaccid
  19. 19. • MND in the presence of both upper and lower • • • • motor neuron degeneration is ALS. Where the illness affects only the upper motor neurons it is PLS. Where the illness affects only the lower motor neurons it is PMA. Progressive bulbar palsy is degeneration of the lower motor neurons innervating the bulbar region (mouth, face, and throat). Pseudobulbar palsy refers to degeneration of the upper motor neurons to the same region.
  20. 20. PROGRESSIVE MUSCULAR ATROPHY • Predominantly spinal motor neurons affected • Weakness and wasting of distal limb muscles at • • first Fasciculation in muscles Tendon reflexes may be absent
  21. 21. PRIMARY LATERAL SCLEROSIS • This form presents with weaknessof limbs. O/E there are all the features of UMN lesion ie spasticity, brisk reflexes and upgoing plantars. • It is purely an UMN variant.
  22. 22. AMYOTROPHIC LATERAL SCLEROSIS • Frequently called Lou Gehrig’s disease. In memory of the famous baseball player Lou Gehrig, who died from ALS in 1941. Lou Gehrig Photo from Gehrig’s homepage
  23. 23. AMYOTROPHIC LATERAL SCLEROSIS • Amyotrophic comes from the Greek language: A- means • • • "no", myo refers to "muscle", trophic means "nourishment"; amyotrophic means "no muscle nourishment," which describes the characteristic atrophication of the sufferer's disused muscle tissue. Lateral identifies the areas in a person's spinal cord where portions of the nerve cells that are affected are located. As this area degenerates it leads to scarring or hardening ("sclerosis") in the region.
  24. 24. BULBAR LESIONS • There is involvement of tongue, palate and pharyngeal muscles leading to dysarthria and dysphagia. • There may be bulbar palsy (LMN lesion) • Or pseudobulbar palsy ie UMN lesion.
  25. 25. DIFFERENCES BETWEEN BULBAR & PSEUDOBULBAR PALSY • BULBAR PALSY • Tongue is flaccid & • • fasciculating Jaw jerk is normal or absent Speech is nasal or hoarse • PSEUDOBULBAR • Tongue is spastic • Jaw jerk is increased • Speech is like Donald Duck
  26. 26. DIAGNOSIS • Diagnosis is clinical. • Investigations are done only to rule out other diseases.
  27. 27. INVESTIGATIONS • • • • CT / MRI brain EMG NCS SPINAL IMAGING
  28. 28. MANAGEMENT •NON-PHARMACOLOGICAL MEASURES • PHARMACOLOGICAL MEASURES
  29. 29. GENERAL MEASURES • • • • • • • • Physiotherapy Psychotherapy Speech therapy & communication devices Occupational assisstance Splints, walking aids Wheelchairs Percutaneous gastrostomy Non-invasive ventilatory support
  30. 30. DRUGS • Riluzole ;a glutamine receptor antagonist; 100 mg/ day is modestly effective in prolonging life by upto 2 months. • Nerve growth factor • Insulin like growth factor 1 (IGF-1)
  31. 31. RESEARCH WORK • The search for a drug that will slow MND • progression is under way. For example, recent research using mouse models suggests that minocycline, a common antibiotic, may also be effective in extending the lifespan of MND sufferers. Minocycline extends the lifespan of MND mice with SOD1 mutations, but it does not prevent their eventual death. Other agents that are currently in trials include ceftriaxone, arimoclomol and coenzyme Q10.
  32. 32. PROGNOSIS • • • • • It is a progressive disease. Mean time from diagnosis to death is 1 year. Most patients die within 3 to 5 years of onset of illness. Younger patients & those with bulbar symptoms show a more rapid course. Death is usually from respiratory infections & complications of immobility.
  33. 33. FAMOUS PERSONS WITH MND • JASON BECKER • PROF STEPHEN HAWKING

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