25M muscular dystrophy

25 year Old student ,resident of annareddy gudem is brought to the opd with cheif complaints of 
Cough since 1 month
Fever since 1 month

Patient was apparently asymptomatic 1 month back then he developed 
Cough 
Duration 1month
Onset insidious, 
Occasional - 5-6 bouts /day
Non productive
Non barking type
Non paroxysmal cough
Associated with fever 
No post tussive vomiting

Fever-
Low grade , intermittent, not associated with chills and rigors,
No diurnal variation
Not associated with burning micturition, loose stools,vomiting ,pain abdomen

Past history-
 2009-10‐-> 
Patient developed weakness of lower limbs, difficulty in walking 
Was taken to private hospital for the same 

Weakness of the limbs--
Insidious onset, gradually progressive, paresis
Weakness begun in the lower limbs gradually progressed to upper limbs over 4- 5 months
Weakness distal to proximal progression
With tipping of tors, slippage of chappals
Later patient developed difficulty in getting up from sqatting and difficulty in sitting position

UL- difficulty in feeding himself and mixing food present 

No difficulty in lifting head off pillow , rolling over bed,breathing difficulty,diurnal variation

2010-11
Wasting and thinning of muscles present progressive 
Initially lower limbs f/b upper limbs 
Not associated with pain, fatigue,muscle cramps,Involuntary movements

Patient had clumsiness of hands ,unsteadiness gait with swaying 

Sensory involvement-- not seen
Hmf - bowel,bladder,sleep,mood --normal
Cranial nerve-- normal
Cerebellar--spilling food+
Autonomic--sweating,Palpitations  -

2013-14-
Patient couldn't walk due to the progressive Weakness
And is bed ridden since then

Developmental milestones- 
Allegedly normal 

Personal history-
Unmarried, mixed Diet, no Addictions,
Regular bowel and bladder movements ( bowel 1 every 2 days)

Family history-
1st child born out of Non consanguinous marriage
No relevant family history 

Treatment history-
Initially used few supportive medications for few months In 2010 to 13 

General examination:

25 year old male conscious ,coherent ,cooperative
Well oriented to time,place,person
Thin built ,poorly nourished
Afebrile to touch
No Pallor,icterus,clubbing,cyanosis,lymphadenopathy, edema

Neurocutaneous markers ? Absent 


Vitals-
Bp- 110/ 70 mm hg rt ul supine position
Pr- 89 bpm, regular rate ,rhythm, volume 
Rr- 24 cpm ,thoraco abdominal type
Temp- 99F 


Neurological examination--

HMF-
Conscious
Speech - normal ( difficulty while speaking fast)
Memory intact
MMSE- 28/30

MOTOR- 

                         RT.                 LT.  
BULK-      UL    wasting.       Wasting 
                 LL.    Wasting.     Wasting 

Palpation- 


TONE--
               UL.      N.              N
               LL.      Hypo.       Hypo

POWER--
         UL  
        Shoulder bilateral Flexion, Extension,                lateral ,medial rotation,abduction,                      adduction --4/5

        LL
         Hip
         Flexion -- 3/5.    3/5. 
         Extension-
         Abduction--4/5.   4/5
         Adduction--3/5.    3/5
   Lateral rotation -3/5.  3/5
   Medial rotation - 3/5.  3/5
 knee F,ext-- 4/5.  4/5. 
Ankle--
Dorsiflexion.   --       --
Plantarexion.   --      --
Inversion.         --      --
Eversion.          --      --
Trunk muscles.  --
Brevors sign---

Superficial reflexes -- intact ( Corneal, conjunctival,abd)

DTR
Jawjerk -- absent
Biceps.  +     +
Triceps. +     +
Knee.      -      -
Ankle.    -      -

Cerebellar--
Essential tremor+
Titubation, finger nose, finger Heel, dysdiadokinesia -

Sensory --





Investigations-

         



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