Neuromuscular pathophysiology final

• Etiologyof progressive bulbar paslay

  Exact cause unknown, may or may not be a subtype of ALS
• Pathophysiologyof progressive bulbar paslay

  • Affects lower motor neurons, but also maybe upper motor neurons, typically manifests first in bulbar (brain stem) lower motor neurons
• Signs & Symptomsof progressive bulbar paslay

  • Pharyngeal muscle weakness
  • Dysarthria
  • Dysphagia
  • Facial & jaw weakness, tongue muscle atrophy
  • Significant risk for choking & aspiration pneumonia
  • Emotional lability
• Prognosisof progressive bulbar paslay

  • Symptoms gradually worsen, most individuals die due to respiratory failure 10 years after symptom onset, may progress to ALS, but also may be subtype of ALS
• Medical Managementof progressive bulbar paslay

  • No cure
  • Symptom-specific supportive care
  • Riluzole may prolong survival
  • Other medications for symptom relief
  • Supportive multidisciplinary care to promote mobility & quality of life
• Acute Lymphoblastic Leukemia


  Also known as Acute Lymphocytic Leukemia (ALL)
• Etiology of ALL is unknown
• Some environmental exposures indicated for ALL


  • Benzene
  • Ionizing radiation
  • Previous exposure to chemotherapy or radiation therapy
• Some genetic components contribute to ALL
• Pathophysiology of ALL


  DNA damage causes lymphoid cells to replicate & divide uncontrollably, spreading throughout the body
• Common signs and symptoms of ALL


  • Palpable liver
  • Palpable spleen
  • Pallor
  • Fever
  • Bruising
• Other signs and symptoms of ALL


  • Night sweats
  • Easy bruising
  • Unexplained lymphadenopathy
  • Weakness
  • Hepatosplenomegaly
  • Dyspnea
• Prognosis for ALL


  1. year relative survival rate of ALL is >85%, but not good prognosis for adults with ALL
• Medical management of ALL


  • Induction therapy (first line treatment)
  • Consolidation therapy (to kill remaining cancer cells after first line therapy)
  • Maintenance therapy (to keep cancer from coming back)
  • Treatment protocols usually take 2-3 years
• Most individuals diagnosed with ALL are before age 18
• Peak diagnosis of ALL is between 2-10 years old
• Incidence of ALL is about 3.3 per 100,000 children
• Metastatic Breast Cancer

  Cancer that has spread from the breast to other parts of the body
• The etiology (cause) of metastatic breast cancer is unknown
• Pathophysiology of metastatic breast cancer

  1. Breast cancer cells break away from site of origin

  2. Spread to other body parts via lymphatic system

  3. Spread to other body parts via blood stream
• Signs and symptoms of metastatic breast cancer

  • Bone metastasis: pain, fractures, swelling
  • Brain metastasis: headache, nausea, vomiting, seizures, dizziness, confusion, loss of balance, other CNS changes
  • Lung metastasis: shortness of breath, dyspnea
  • Liver metastasis: jaundice, abdominal pain/swelling, itchy skin or rash, loss of appetite, nausea
  • Metastatic spinal cord compression: back pain, limb weakness, difficulty walking, sensory loss, bowel/bladder dysfunction
• The 5-year relative survival rate of metastatic breast cancer is 30%
• Medical management of metastatic breast cancer

  • No cure
  • Goals: prolong survival, reduce side effects, maximize quality of life
• Breast cancer affects 1 in 8 American women in their lifetime and 1 in 1000 American men
• About 30% of all patients diagnosed with early stage breast cancer will later develop metastatic breast cancer
• epidemiologyof spinal and bulbar muscular atrophy

  worldwide prevalence 1 per 300,000 males, those with European or Asian ethnic background
• medical Management spinal and bulbar muscular atrophy

  no current disease-modifying treatments, supportive multidisciplinary care
• prognosisof spinal and bulbar muscular atrophy

  typically associated with normal life expectancy, slowly progressive, over time muscle atrophy becomes more prominent, 1/3 of affected individuals will require a wheelchair 20 years after diagnosis
• multi-system effectsspinal and bulbar muscular atrophy

  • sensory
  • autonomic
  • CNS
  • metabolic
  • hormonal (androgen sensitivity)
  • cardiac
• later on, may present with (spinal and bulbar muscular atrophy)

  dysarthria, dysphagia
• signs and symptomsof spinal and bulbar muscular atrophy

  • Neuromuscular symptoms neuromuscular atrophy 2% each year, difficulty with walking, increased falls, muscle cramps, tremors, decreased deep tendon reflexes
• Pathophysiologyof Spinal and bulbar

  degeneration of LMN, additionally may experience extra motor neuron features
• Etiology of KD:

  X-linked neuromuscular disorder, Cytosine, adenine, and guanine (CAG) repeats in the androgen receptor gene