Paraparesis case

I've been given this case to solve in an attempt to understand the topic of "patient clinical data analysis" to develop my competency in reading and comprehending clinical data including history, clinical findings, investigations and come up with a diagnosis and treatment plan. 

You can find the entire real patient clinical problem in this link 
https://hitesh116.blogspot.com/2020/05/12may-2020-elog-medicine-intern.html?m=1

Complaints:
 - weakness of both lower limbs since 20 days
 - weakness started in proximal region 2 years ago, which is insidious in onset, gradually progressive; later progreesed to distal region
- h/o difficulty in squatting position and getting up from squatting position
- h/o difficulty in wearing and holding chappals
- there is non-pitting type of edema in both lower limbs 
- no h/o difficulty in combing hair, buttoning and unbuttoning shirt
Examination:
 - patient is conscious, coherent, coperative 
 - well oriented to time, place and person
 - higher mental functions= normal
 - Cranial nerves- intact
 - Motor system-
      tone - normal
      power -  4-/5 in both lower limbs
      reflexes absent in both lower limbs
 - sensory system-normal
 - No meningeal signs
 - No cerebellar signs

My analysis:
*Anatomical location of cause of paraparesis:
- h/o difficulty in squatting position and getting up from squatting position: suggesting proximal weakness ( lower limbs)
- h/o difficulty in wearing and holding chappals: suggesting foot drop due to distal weakness
- no h/o difficulty in combing hair, buttoning and unbuttoning shirt: there's no involvement of upper limbs (proximal and distal)
- hypotonia and areflexia in both lower limbs: suggesting LMN type of lesion
  - here, the distribution is symmetrical, sensory system is intact and there are no complaints of fatiguability, fluctuating weakness; so, we can rule out anterior horn cell disease, peripheral neuropathy, neuromuscular junction disease
 - in this case, the lesion could be at the level of muscle
* Differential diagnosis:
  - muscular dystrophy
  - drug induced myopathy
  - endocrine myopathy
  - CIDP ( chronic inflammatory demyelinating polyneuropathy)
  No h/o usage of any drugs; symptoms related to endocrine system abnormalities are not there; so we can rule out these two myopathies
  CIPD can be ruled out as NCV is normal
  Now we are left with muscular dystrophy. There are 2 types of muscular dystrophies that can lead to proximal muscle weakness (mainly)
   - Duchenne muscular dystrophy
   - Becker's muscular dystrophy
  Both are X- linked; associated with deletions in dystrophin Gene Xp21

Differentiating features:
Duchenne muscular dystrophy:
  - age of onset: < 5yrs
  - life expectancy: teens
  - dystrophin levels: markedly reduced
 Becker's muscular dystrophy:
  - age of onset: childhood/ early adult
  - life expectancy: 40- 50yrs
  - dystrophin levels: normal, but protein is abnormal
In this case it could be Becker's muscular dystrophy as age of onset and life expectancy are higher compare to DMD

*Treatment:
 - physiotherapy
 - corticosteroids ( Prednisolone or Prednisone)
 - future treatments for BMD may include gene therapy, exon skipping, ataluren, creatine, deacetylase inhibitors, myostatin inactivation, and cell therapy (myoblast treatment, and/or the use of stem cells)
 https://www.google.com/url?sa=t&source=web&rct=j&url=https://rarediseases.info.nih.gov/diseases/5900/becker-muscular-dystrophy&ved=2ahUKEwjZ6MaSoNfpAhXQxTgGHW2wAYgQFjALegQIBBAB&usg=AOvVaw2jR0g4T2l3HlAi63IofloK&cshid=1590692987429
 
  
   
  

 


 

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