A case of 18 yr old patient with bilateral limb weakness with edema

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, inveatigations  and come up with diagnosis, treatment plan

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 Entire real patient  clinical problem in this link here: //srianugna.blogspot.com/2020/05/hello-everyone.html

A 18 years old male patient with bilateral lower limb weakness since 20 days   the weak ness was started 2 years  back in proximal region  and gradually progressive to distal region.  bilateral  non pitting type of edema in lower limbs. H/o difficulty of squatting position and getting from the position. On examination there is areflexia.

 Weakness cause may be neuro genic , myogenic, traumatic cause .

No h/o trauma so it is ruled out.
 Neurogenic may be UMN LESION, LMN LESION. But the features are some related to LMN.

LOWER MOTOR LESION:
Anterior horn cells
Nerve roots
Peripheral nerves
Neuromuscular junction
Muscle

Anterior horn cells: it includes spinal muscular atrophy( areflexia, weakness,muscle twitching respiratory muscle involvement should be seen .diagnosis by genetic testing,  CT , MRI .By features , investigations it is ruled out.Nerve root( radiculopathies): there should be pain, radiation of pain diagnosis by CT , MRI. By above things we can rule out .

 Peripheral nerve involvement ruled out by nerve conduction studies,.

 Neuromuscular junction  -by features and  electromyography it can be ruled out from other diseases.

 Muscle(myogenic causes):  It may  include
Inflammatory causes- muscle biopsy is done and impression given-no suggestive of polymyositis.

Metabolic causes -no features of glycogen storage disorders.

Drug induced-no history of drug intake.
Endocrine causes-thyroid profile is normal thyroid myopathy is ruled out.

Diagnosis may be muscular dystrophy  (muscle biopsy)
Muscular dystrophy:
-myotonic dystrophy
- duchene's muscular dystrophy
--Beckers muscular dystrophy

Myotonic dystrophy :it involves facial muscle by sparing proximal muscles so it is ruled out.

Duchenes muscular dystrophy, beckers muscular dystrophy are genetic disorders but  patient with DMD will occurs symptoms by 3 to 5 years of age and may die by 18 to 20 years  with lung infections joint contractures, but in beckers disease there weakness,  proximal muscles are involved but onset of symptoms take longer time, there will be hypertrophy of calf muscles.

Investigations:
 Genetic  testing - mutation of DMD gene
Electromyography- to differentiate between muscle or nerve causes.

 Renal function tests-creatinine , urea levels are more, levels of phosphorous , calcium, potassium levels are taken to rule out rhabdomyolysis.

Complete urine examination is done

ECG -ventricular hypertrophy (cardiomyopathy)
 The diagnosis may be BECKER'S MUSCULAR build DYSTROPHY.

ANATOMICAL SITE-MUSCLE

 PHYSIOLOGICAL DISABILITY-difficult to squat and change the position from squatting to standing, to climb upstairs, wearing of slippers.

TREATMENT: no cure for this beckers disease yet. Symptomatic treatment,  steroids are given to slow down the progression,  prednisone may helpful in production of utrophin which closely ressembles dystrophin. Orthopaedic surgeons can treat  contractures,  associated with cardiomyopathy can be treated by ACE inhibitors, ARBS,beta blockers.

 Non pharmacologically  -physiotherapy, rehabilitation