A CASE OF MUSCULAR DYSTROPHY

P.NIKHITHA
ROLL NO.130

I HAVE 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.

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FOLLOWING IS MY ANALYSIS OF THIS PATIENT'S PROBLEM:

THE PROBLEMS IN ORDER OF PRIORITY I FOUND ARE:
  1. weakness startes in proximal region and progressed to distal region [foot drop] in both lower limbs.
  2. difficulty in squatting.
  3. difficulty in wearing or holding chappals.
  4. B/L oedema of non pitting type in lower limbs.
By above history it is clear that only lower limbs are affected.


PAST HISTORY: No significant past history.
FAMILY HISTORY: no significant history.

GENERAL EXAMINATION:
  • Conscious, coherent, co-operative.
  • pulse: 92bpm
  • BP: 130/90mmhg
  • RR: 18 cycles/min
  • Edema of nonpitting type.( in LL)
SYSTEMIC EXAMINATION:
  1. CVS:  S1,S2 heard, no added murmurs.
  2. RESP: nvbs
  3. P/a:  no tenderness, no organomegaly, all quadrants are moving equally with respiration.
  4. CNS: patient is conscious, coherent, coperative 
    patient 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

GAIT: waddling or duck like gait
  • reason: pelvis is rotated through an abnormally large arc, appriciated clearly while he is climbing step in the video.( https://youtu.be/3VVH7w3rWSM )
  • It indicates myopathic gait.

INVESTIGATIONS:

*Abnormalities in investigations:
  • ↑creatinine
  • lymphocytisis
  • pathology report: shows chroic inflamatory cells, atrophy/ necrosis of muscle fibres, no evidence of polymyositis .
DIANOSIS: Becker muscle dystrophy suggested by history and physical signs with high creatinine levels.

                 ➤ it can be confirmed by standard DNA analysis.

Anatomical location for the cause of paraparesis?
  • As there are no neurological symptoms such as headache, tingling and numbness, loss of sight, memory loss, impaired mental ability, loss of co-ordinatio and also looking into CNS examination, nervous system cause is ruled out.
  • also there are no specific symtoms related to NMJ disorders like lambert eaton syndrome and myathenia gravis
  • so, now the cause is restricted to skeletal muscle disorder.
  • muscular dystrophies can be recognised by clinical features[ex:muscle hypertrophy, contracture, evidence of cardiac involvement and by the pattern of involvement of muscle groups]
  • Based on patients symptoms/physical signs attributed to pathological and biochemical changes which are occuring in muscle fibres and as there is no evidence that the symptoms related to the muscles are in a way secondary to disordere function of CNS, it could be a case of  DYSTROPHINOPATHY.
DMD OR BMD?

➲ Features suggestive of Duchene muscular dystrophy:
  1. progressive loss of motor strenth especially to the proximal muscle group.
  2. calf pseudohypertrophy.
➲"It is not a case of duchene muscular dystrophy", WHY?
  1. No intellectual impaiment[as it is common in DMD]
  2. No cardiomyopathic features [as it is seen in almost all patients of DMD]
              ↳ ECG shows normal Q waves and R wave[In DMD there will be presence of narrow Q waves and tall R waves]
        
        3. Gower's sign negative[Positive Gower's sign is pathognomic of DMD]
      4. no scoliosis and no equinovarus foot.

➲BECKER MUSCLE DYSTROPHY:
  • Calf muscle hypertrophy is striking.
  • clinical course is much more benign than DMD.
Etiopathogenesis:
Types of myopathies are:
  1. Inflamatory myopathy
  2. muscular dystrophy
  3. myotonic syndromes
  4. congenital myopathies
  5. metabalic myopathies
  6. endocrine myopathy
  7. drug induced /toxic myopathy

  • The cause could be muscular dystrophy as there are no evidences for other causes in history, examination and investigations.
Pathology:
  • BMD and DMD are forms of dystrophynopathies.
  • They are due to abnormal muscle protien and generally characterised by fibre necrosis and replacement of muscle by fat and fibrous connective tissus.
  • In mutations of encoding gene, complete loss of Dystrophin leads to DMD and partial dystrophin deficiency is characteristic of BMD.
  • Dystrophin defiency results in loss of structural integrity of the muscle surface membrane.
Therapeutic options:
➮There is no cure for muscular dystrophy.

➮Physical therapy, braces[orthosis], corrective surgery may help.

➮Steroids - to slow down muscle degeneration.

➮immunosuppresents to delay the damge to underlying muscle cells.

➮Gene therapy- using myoblats and other cells transfected with dystrophin mini-gene may restore muscle dystrophin.


My thoughts on this case
  • Auscultation should be done again to check if there is progression to myocardial fibrosis.
  • cardiac MRI is needed to assess Hypertrophic caediomyopathy.
  • continue current treatment plan
                                                                             
                                    T Prednisolone 15mg po od
                                             T Pantop 40mg bbf
                                             T Met xl 12.5mg od
                                              Cap Becosules od
                                             T Chymerol forte od
                                             T Taxim 200mg bd
                                             T Vit c od
                                              T Ultracet sos

Queries!
  1. Is there any  improvement with current treatment plan?
References:




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