general medicine case:3

"18 year male patient with bilateral lower limb weakness and calf muscle hypertrophy "
NIKITHA TALLAPELLI 
ROLLNO.163 
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 entire real patient clinical problem in the link given below:
https://hitesh116.blogspot.com/2020/05/12may-2020-elog-medicine-intern.html?m=1
Before case study I just thought to explain definition of weakness 
Muscle weakness happens when full effort doesn't produce a normal contraction and movement.
 Patient history:
18yr old male patient came with chief complaints of bilateral lower limb weakness since 20 days and associated with hypertrophy. 
Past history:
Weakness in proximal region,incidious in onset ,gradually progressive (2yrs back)
Bilateral edema,non pitting. 
Associated with
-h/o difficulty in squatting and difficulty in getting up.
-h/o difficulty in wearing and holding chappals.
-No h/o difficulty in combing,buttoning. 
-no cranial nerve involvement. 
Few important findings in given case:
*reflexes absent.
*slightly elevated urea,creatinine,uric acid
*leucocytosis(lymphocytes:44)
*muscle biopsy:atrophic and necrosis of muscle fibres.
*dilated heart (forcible heartbeat) biventricular hypertrophy-as mentioned in video.
Investigations to be done:
1.thyroid profile
2.genetic markers
3.chest x ray
4.serology
5.muscle biopsy 
6.nerve conduction tests
7.electromyography
8.CBP
9.electrolytes examination 
10.optic functions 
11.speech evaluation 
12.behaviour examination. 
Differential diagnosis of weakness of lower limbs:
1.autoimmune:
a.myasthenia gravis:
Myasthenia gravis can be excluded because patient muscle biopsy doesn't show any antibodies against muscle receptors. 
2.Hypothyroid myopathy:
Thyroid profile is not mentioned in case,i guess it is normal.
3.Electrolyte imbalance:
Potassium and calcium are in normal range.
4.stroke:
Usually sroke results in sudden symptoms but in given case symptoms are gradual ,progressive. 
5.peripheral neuropathy:
There is no problem in nerves as nerve conduction study reveals normal results. 
6.alcohol myopathy:
As patient doesn't have habit  of alcohol consumption, it can be excluded .
7.NMJ DEFECTS:
A.MULTIPLE SCLEROSIS
B.AMYOTROPHIC LATERAL SCLEROSIS 
C.MUSCULAR DISTROPHY
        A.MULTIPLE SCLEROSIS 
   IT IS A DISEASE WHERE IMMUNE SYSTEM EATS AWAY THE PROTECTIVE COVERING OF NERVES.
SYMPTOMS:VISION LOSS,IMPAIRED CO ORDINATION, COGNITIVE PROBLEMS. 
These symptoms are not observed in given case. 
    B.ALS
PROGRESSIVE NERVOUS SYSTEM DISEASE THAT AFFECTS NERVE CELLS IN BRAIN AND SPINAL CORD- CAUSING LOSS OF MUSCLE CONTROL.
SYM: DIFFICULTY IN WALKING, SLURRED SPEECH,BEHAVIOUR CHANGES. 
AGE OF ONSET:40-60YRS
as the given patient is 18yr old,this condition is excluded. 
     C.MUSCULAR DISTROPHY 
Muscular dystrophy is a group of diseases that cause progressive weakness and loss of muscle mass.
It can be childhood onset,at teen age,at adulthood.
There are 8 types of muscular dystrophy. 
PROVISIONAL DIAGNOSIS:
BASED ON PATIENT AGE AND SYMPTOMS WE CAN CONFIRM THE TYPE OF MUSCULAR DYSTROPHY. 
TYPES OF MUSCULAR DYSTROPHY:
1.DUCHENE MUSCULAR DYSTROPHY 
2.MYOTONIC MUSCULAR DYSTROPHY 
3.BECKER MUSCULAR DYSTROPHY 
4.LIMB GIRDLE MUSCULAR DYSTROPHY 
5.FACIO SCAPULO HUMERAL DYSTROPHY 
6.CONGENITAL MUSCULAR DYSTROPHY 
7. OCULO PHARYNGEAL DYSTROPHY 
8.DISTAL MUSCULAR DYSTROPHY 
       1.DMD
IT IS INHERITED, SYMPTOMS:difficulty in standing,shortening of muscles,
Age of onset:2-5yrs
*breathing problems
*at 12yrs,patient must use wheel chair.
As mentioned above,patient in given case is 18yr old and has difficulty in walking since 20 days.
No breathing problems. 
SYMPTOMS are not present from 2-5yrs old.
DMD is excluded. 
     2.MYOTONIC MUSCULAR DYSTROPHY 
It is a genetic disorder, worsening muscle loss and weakness. 
Cataract, intellectual disability. 
Muscle contract and unable to relax(patient difficulty releasing their grip on handle).
Above symptoms are not observed in given patient.
He doesn't have cataract, can hold handle,chair ,intellectually normal.can understand what we say and answer.
This type is also excluded.
       3.BECKER MUSCULAR DYSTROPHY 
Mostly seen inteen yrs. Difficulty in walking, climbing. Enlarged calves,cardiac problems 
Muscle biopsy shows:active muscle fibre necrosis followed by regenerating process was conspicuous. 
GOWER'S SIGN IS PRESENT. 
as mentioned, most of the symptoms are present in the given patient:
His symptoms started at 16yrs,hypertrophy of calves,muscle biopsy shows necrosis,uses hand to stand from sitting position (GOWER'S sign)
-patient even had biventricular  hypertrophy and forciful heartbeat. 
*THE CASE IS PROBABLY BECKER MUSCULAR DYSTROPHY. 
      4.LIMB GIRDLE M D
MOSTLY  IN CHILDHOOD .MUSCLES AFFECTED: PELVIS,SHOULDER, HIPS.FAST HEART BEAT(PALPITATIONS).
But in patient, heart rate is normal
     5.Facio scapulo humeral M D 
  Starts at teen age,some doesn't even realize.
1st on face(unable to close eyes),one side is AFFECTED more than other.
But the given patient is bilaterally affected. 
          6.CONGENITAL M D
APPER AT BIRTH.
The given patient has onset at 16yrs.
       7.OCULO PHARYNGEAL M D
MUSCLES OF UPPER LIDS,THROAT ARE INVOLVED.
40-60YRS AGE OF ONSET. 
patient has initially lower limb weakness .
      8.DISTAL M D
AGE OF ONSET: 40-60YRS.
DISTAL MUSCLES ARE INVOLVED. 
but in  given case,proximal muscles are involved. 
TREATMENT:
Becker muscular dystrophy patient can be treated with physiotherapy, medications,exercises. Medications:
1.prednisolone-slow down the course of disease.
2.ace inhibitors and beta blockers to prevent deterioration of cardiac muscle.
3.exercise:it improve muscle strength and cardiac circulation but before exercise cardiac evaluation must be done.
4.respiratory care it breathing muscles are effected.   
Reference:
https://www.healthline.com/symptom/muscle-weakness#causes  
.https://www.mda.org/disease/becker-muscular  
https://www.mayoclinic.org/diseases-conditions/muscular-dystrophy/symptoms-causes/syc-20375388 
Answers: 
1.three different anatomical positions for cause of paraparesis-
a.nerve
b.muscle
c.neuromuscular Junction. 
*muscle is affected in the given patient.
Mostly LMN lesion. 
2.pathology and eitiology of condition:
Becker muscular dystrophy results in muscle fibre necrosis,muscle destruction. 
Cause can be mutation of Distrophin gene.
3.therapeutic options:
Steroids,beta blockers,respiratory care,exercise.

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