18 year old male with bilateral weakness and edema of lower limbs
18 yr old male with bilateral weakness and edema of lower limbs
i've been given this case to solve in ana attempt to understand the topic of "patient clinical data analysis" to develop my competency in reading and comprehending clinical data includng history,clinical findings,investigations and come up with a diagnosis and treatment plan.
chief complaints:
the problems in order of priority i found are
1.weakness of both lower limbs since 20 days
2.bilateral edema in lower limbs
history of presenting illness
1.b/l weakness in lower limbs
-weakness initially started in the proxinal region 2 yrs back
onset:insidious in onset
progression:gradually to distal region
associated features
-difficult in wearing and holding chappals
-difficulty in combing hair,buttoning and unbottuning shirt
calf hypertrophy-B/L
possible diagnosis:
-it may be related to nerves because there is history of difficulty in holding chappals and difficulty in buttoning and unbottoning shirt.
CNS E xamination
-patient is consious ,coherent,cooperative
hmf-normal
cranial nerves-intact
motor system-
tone-normal
power-4/5 in both lower limbs
reflexes absent in both lower limbs.
1.Anatomical locationof the problem
cns examination reveals there is lmn lesion
lmn lesion can be particularly divided into
1)neurogenic
2)neuromuscular junction
3)muscle
Neurogenic-
nerve conduction test is normal.
neuromuscular -
electromyography is normal
muscular-
muscle biopsy is done
report(quadriceps femoris)-no evidence of polymyosis and may be suggestive of dystrophy.
-creatinine levels are elevated.
2.etiopathogenesis
muscular dystrophy
-proximal weakness of lower extremities occur first and muscle biopsy report shows fat cells and necrotising and regenerative muscle fibres are seen -suggestive of dystrophy.
There are 3 common types of dystrophies seen
1)myotonic dystrophy
2)duchene's muscular dystrophy
3)becker's muscular dystrophy
-investigations for muscle biopsy reveals beckers muscular dystrophy.
-dystrophin muscle protein is absent.
THERAPEUTIC OPTIONS
there is not a cure for becker muscular dystrophy.The treatment of BMD focuses on lessening the symptoms associated with it. There is no cure, but treatments are available to help with symptoms and maximize muscle function. It is vital that a person with BMD stay in shape and continue to use their muscles. This can include physical therapy. Treatment can also include genetic counseling, using splints, massages, and catabolic steroids. It is probable that person will eventually require wheel chair.
i've been given this case to solve in ana attempt to understand the topic of "patient clinical data analysis" to develop my competency in reading and comprehending clinical data includng history,clinical findings,investigations and come up with a diagnosis and treatment plan.
chief complaints:
the problems in order of priority i found are
1.weakness of both lower limbs since 20 days
2.bilateral edema in lower limbs
history of presenting illness
1.b/l weakness in lower limbs
-weakness initially started in the proxinal region 2 yrs back
onset:insidious in onset
progression:gradually to distal region
associated features
-difficult in wearing and holding chappals
-difficulty in combing hair,buttoning and unbottuning shirt
calf hypertrophy-B/L
possible diagnosis:
-it may be related to nerves because there is history of difficulty in holding chappals and difficulty in buttoning and unbottoning shirt.
CNS E xamination
-patient is consious ,coherent,cooperative
hmf-normal
cranial nerves-intact
motor system-
tone-normal
power-4/5 in both lower limbs
reflexes absent in both lower limbs.
1.Anatomical locationof the problem
cns examination reveals there is lmn lesion
lmn lesion can be particularly divided into
1)neurogenic
2)neuromuscular junction
3)muscle
Neurogenic-
nerve conduction test is normal.
neuromuscular -
electromyography is normal
muscular-
muscle biopsy is done
report(quadriceps femoris)-no evidence of polymyosis and may be suggestive of dystrophy.
-creatinine levels are elevated.
2.etiopathogenesis
muscular dystrophy
-proximal weakness of lower extremities occur first and muscle biopsy report shows fat cells and necrotising and regenerative muscle fibres are seen -suggestive of dystrophy.
There are 3 common types of dystrophies seen
1)myotonic dystrophy
2)duchene's muscular dystrophy
3)becker's muscular dystrophy
-investigations for muscle biopsy reveals beckers muscular dystrophy.
-dystrophin muscle protein is absent.
THERAPEUTIC OPTIONS
there is not a cure for becker muscular dystrophy.The treatment of BMD focuses on lessening the symptoms associated with it. There is no cure, but treatments are available to help with symptoms and maximize muscle function. It is vital that a person with BMD stay in shape and continue to use their muscles. This can include physical therapy. Treatment can also include genetic counseling, using splints, massages, and catabolic steroids. It is probable that person will eventually require wheel chair.
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