A18yr old male patient with bilateral lower limb weakness since 20dsys

KYASA SAI BRIGISHA  roll no 95

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

Complaint of patient priority wise

1) bilateral lower limb weakness since 20 days
Progressive weakness intially in the proximal muscles and at present distal muscles are involved

2) swelling of the lower limbs in calf region
3) difficulty in getting up from squatting position

CNS examination 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
BASED ON THE ABOVE HISTORY
My evaluation points for LMN pathology=as there is absent reflexes

Anterior horn cell involvement=wasting is seen and more of distal muscle involvement ,hence this is ruled out

Gangliononopathies: mostly sensory ataxia and post columns involvement ,hence ruled out

Peripheral neuropathy=more of sensory involvement than motor

Neuromuscular junction=fatigability fluctuating weakness pharyngeal and ocular involvement is present 

Muscle=motor involvement more commonly proximal muscles involved no eating seen 
 
BASED ON THE ABOVE CONCLUSION
The site of pathology may be 
Peripheral neuropathy
Neuromuscular junction
Muscle 

Investigations
Complete blood picture
Serology to find if any infectious pathology
Renal function test to rule out rhabdomyolysis
Complete urine examination
Muscle biopsy for inflammatory causes and dystrophies 
ECG to understand if any muscle pathology

Hemogram shows  leukocytosis 
Serology is negative
EMg is normal no neuromuscular junction pathology
Nerve conduction studies are normal no peripheral neuropathy
Muscle pathology can be suspected

ANATOMICAL location
 
Muscle dystrophies or inflammatory

Types of muscular dystrophy divided into intermittent and persistent 
Persistent is divided into inherited and acquired causes
Inherited duchenne muscular dystrophy, Becker muscular dystrophy limb girdle muscle dystrophy
Emery dreifuss muscular dystrophy
  myotonic dystrophy 

duchenne muscular dystrophy is associated with waddling gait toe walking proximal lower limb muscles weakness pseudo hypertrophy of calf muscles and scoliosis

Becker muscular dystrophy has a variable disease onset and survival simple 40 years contracts are not seen biopsy AMG are similar to duchenne muscular dystrophy

limb girdle muscular dystrophy is associated with scoliosis scapular winging contractures and diamond sign on thigh

emery muscular dystrophy is associated with permanent contractures and cardiomyopathy

Myotonic dystrophy is associated with hazard faces dysarthria respiratory involvement myotonia insulin resistance

 the patient's disease condition is more consistent with Becker muscular dystrophy
Pathogenesis of muscular dystrophy

  • Mutations in the DMD gene lead to reduced production of a truncated dystrophin protein which maintains partial functionality
  • Dystrophin is a structural protein involved in linking the cytoskeleton with the extracellular matrix
Other causes of acquired muscular dystrophy
Toxic causes, like alcohol cocaine snake venom

Endocrine disorderslike hyperthyroidism hyperthyroidism ,Cushing syndrome ,addison's disease, osteomalacia. 
normal calcium levels and potassium levels are seen in this patient

Histological pattern

Variation in microfiber size with small atrophic fibres and large around fibres

Microfiber splitting with necrosis phagocytosis and regeneration

Endomysial fibrosis and fatty replacement

Reference

Inflammation with microfiber necrosis 
http://www.amazon.com/exec/obidos/ASIN/1416062203/pathologyoutl-20
other investigations
Creatine kinase level
Genetic testing
Electromyography

Treatment options-pharmacological

Corticosteroids, such as prednisone and deflazacort (Emflaza), which can help muscle strength and delay the progression of certain types of muscular dystrophy. But prolonged use of these types of drugs can cause weight gain and weakened bones, increasing bone fractures

eteplirsen =Eteplirsen's proposed mechanism of actionis to bind to pre-mRNA needed to make a particular muscle protein, dystrophin, and rearrange the splicing of the RNA so that more dystrophin is made.

  • Heart medications, such as angiotensin-converting enzyme (ACE) inhibitors or beta blockers, if muscular dystrophy damages the heart.
Other treatment options-non pharmacological

Range of motion and stretching exercises to to make the joints flexible as it is lost in Becker muscular dystrophy

Braces to keep muscles and tendons stretched

Breathing assistance for sleep apnea

TREATMENT given
     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 
References,
Dystrophy Association. https://www.mda.org/disease/duchenne-muscular-dystrophy. 

 BT. Duchenne and Becker muscular dystrophy: Clinical features and diagnosis. https://www.uptodate.com/contents/search

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