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