PARAPARESIS CASE 1

Presented by Alekhya,8th semester

I have been given clinicla case data to solve in an attempt to understand the concept of PARAPARESIS.

You can find the entire patient's clinical case in the link here:https://srianugna.blogspot.com/2020/05/hello-everyone.html

Following is my analysis of the case

MAIN COMPLAINTS OF THE PATIENT
1.Weakness of bilateral lower limbs since 20 days
2.Bilateral non pitting edema of lower limbs
3.Difficulty in standing from squatting position, wearing and holding chappals


The cause may be neuropathic or myopathic

NEUROPATHY
•As tue patient has areflexia and decreased power of muscle it is likely to be a Lower motor neuron lesion.
It can be at the level of
✓anterior horn cells
✓nerve roots
✓peripheral nerves
✓neuromuscular junction

MYOPATHY
It can be due to
  • Genetic
  • Hereditary
  • Infection
  • Drugs and toxins
  • Metabolic
  • Endocrine
  • Inflammation.
✓Nerve conduction studies helps us to find out nerve pathology.
✓Electromyography helps us to identify neuromuscular pathology
✓Muscle biopsy is indicated to find Myopathy.
*The muscle biopsy of the patient was done and areas of necrosis and atrophy were present . MUSCULAR DYSTROPHY? 
•Duchenne muscular dystrophy(DMD) and Beckers muscular dsytrophy.(BMD)
People with DMD,have severe symptoms and  harldy live upto 20 years of life

Becker's dystrophy is less severe ,manifests around 10 to 20 years and has cardiovascular symptoms

https://www.mayoclinic.org/diseases-conditions/muscular-dystrophy/symptoms-causes/syc-20375388
✓Creatine kinase levels are to be checked as they increase in myopathies.
✓Thyroid profile is to be checked.
*Patient is having calf muscles hypertrophy and non pitting edema.
HOFFMAN'S SYNDROME ??
 Hypothyroid myopathy with proximal muscle weakness and pseudohypertrophy of calf muscles.
✓Complete urine examination is normal so rhandomyolysis can be ruled out
✓Renal function test: urea,uric acid ,creatinine are elevated.
✓ECG: To look for any cardiomyopathy.
*Patient has tachycardia and biventicular hypertrophy.


Gower's sign and gait abnormalities should be looked 

From the above data the differential diagnosis is
•Beckers muscular dsytrophy
•Hoffmans syndrome

ANATOMICAL LOCATION OF LESION
Lower limb muscles , pseudohypertrophy of calf muscles
Cardiomyopathy

PHYSIOLOGICAL FUNCTIONAL DISABILITY
Weakness of lower limbs, difficulty in squatting and standing from sitting position

PATHOLOGY OF THE CAUSE
Mutation in the dystrophin gene,x linked recessive disorder

INVESTIGATIONS
  • Family history for muscular dystrophy
  • Muscle biopsy for dystrophin staining
  • Genetic testing for dystrophin gene
  • Electromyography and nerve conduction studies.
  • Test for creatine kinase.
  • Thyroid profile to check for hypothyroidism.
TREATMENT

  • Physical therapy to provide strength to the leg muscles. 
  • Glucocorticoids
  • Gene therapy ; administration of corrective gene inti muscle targets.

https://emedicine.medscape.com/article/313417-treatment














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