A 35 year old man complains of difficulty in speaking and swallowing (food and fluids) and change in voice since about 4 months. He consulted 3 neuro physicians but without any improvement.
Radiologist reports that MRI-Brain shows small foci of altered hyper-intense signals on FLAIR without restricted diffusion in bilateral fronto-parietal white matter, he concludes that these are non-specific in aetiology & of unknown clinical significance. The MRI film is not available, only the report is available. Lipid profile, liver function tests, routine blood tests and thyroid profiles are normal.
On examination fasciculations and atrophy of the tongue are conspicuously seen.
He has no other health issues except dysarthria, dysphasia, dysphonia and dysphagia. Taste sensation is intact.
This patient is a Goldsmith by profession and does all intricate and fine movements of the fingers and upper limbs to give a beautiful look to the ornaments.
All the tendon reflexes are normal. No wasting of muscles either small or large are seen. Fasciculations are also not seen elsewhere. Higher functions are unremarkable.
He is on Riluzole 50 mg a day since about 3 weeks but without any improvement.
I have advised him Deflazacort 6 mg bid and PPI-Prokinetic combination for 10 days and come for a follow up later.
What is the diagnosis?