Young woman with progressive muscle weakness was suspected to have muscular dystrophy, but a clinical finding pointed to another diagnosis
1. 22-year old Mini had weakness of legs and arms for two years. Weakness began in legs and after a year involved the arms too.
#MedTwitter
1. 22-year old Mini had weakness of legs and arms for two years. Weakness began in legs and after a year involved the arms too.
#MedTwitter
2. Mini had difficulty in getting up from squatting position, climbing stairs, combing hair & reaching for top shelves in kitchen.
She also had myalgia, muscle cramps and fatigue.
She had no numbness and had normal bladder & bowel control.
No one else in family was affected.
She also had myalgia, muscle cramps and fatigue.
She had no numbness and had normal bladder & bowel control.
No one else in family was affected.
3. Mini consulted a local physician, who ordered a few investigations. Serum CPK was high (2600 U/L, normal<190 U/L). EMG showed low/small amplitude potentials suggestive of myopathy. He suspected a diagnosis of Becker's muscular dystrophy & referred for muscle biopsy to confirm.
4. I reviewed Mini's history & performed clinical examination.
First observation was bulkier calves (which can be seen in Becker's muscular dystrophy).
Second was delayed relaxation of ankle reflex (hung up reflex). This made me suspect another diagnosis.
First observation was bulkier calves (which can be seen in Becker's muscular dystrophy).
Second was delayed relaxation of ankle reflex (hung up reflex). This made me suspect another diagnosis.
5. I tried to elicit a specific clinical finding. I tapped on arm muscle with a percussion hammer. The muscle belly formed a lump rising from the surface (mounding) and the lump disappeared after 30-40 seconds. This finding is called myoedema.
Now, the diagnosis was clear.
Now, the diagnosis was clear.
6. I ordered for thyroid profile- reports showed high TSH, low T3 and T4 levels- confirming hypothyroidism.
Now, muscle biopsy was not needed.
Final diagnosis was hypothyroid myopathy. Mini had no other clinical features of hypothyroidism. japi.org/s2e4a444/myopa…
Now, muscle biopsy was not needed.
Final diagnosis was hypothyroid myopathy. Mini had no other clinical features of hypothyroidism. japi.org/s2e4a444/myopa…
7. Mini was started on thyroid hormone supplements. Serum CPK level reduced to 1220 U/L after 4 weeks. TSH level reduced (from 125 to 35 mlU/L) by 3rd month. Muscle strength gradually increased over several months and she had near normal muscle strength after one year follow up.
8. Take home message
*Muscle weakness (myopathy) is a common symptom of hypothyroidism,
*In some cases, myopathy can be the only feature of hypothyroidism,
*Hung up ankle reflex and myoedema are specific clinical findings of hypothyroidism.
#neurotwitter #Endotwitter
*Muscle weakness (myopathy) is a common symptom of hypothyroidism,
*In some cases, myopathy can be the only feature of hypothyroidism,
*Hung up ankle reflex and myoedema are specific clinical findings of hypothyroidism.
#neurotwitter #Endotwitter
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