Table 1.

Non-genetic conditions with similar phenotypes of neurogenetic disorders that were encountered at the neurogenetics clinic

Suspected diagnosis (reason of referral)	Clue for alternative diagnosis	Final diagnosis
Progressive external ophthalmoplegia	Improved with pyridostigmine, positive acetyl choline receptor antibody	Ocular myasthenia gravis
Nieman pick type C	Age: 75, mild postural tremor only without cerebellar, conspicuous extrapyramidal or gaze abnormalities	Essential tremor
Spinal muscular atrophy	Onset age:70, no family history, rapid progression over 2 years, proximal and distal weakness, wasting and fasciculations in 4 limbs, no bulbar involvement, electromyographic evidence of acute and chronic denervation as well as reinnervation in 4 limbs, normal sensory nerves conduction	Progressive muscular atrophy (motor neuron disease)
Hereditary motor and sensory neuropathy	Normal sural nerve conduction, paraparesis and pyramidal signs	Spinal cyst