Table 1.

Symptoms and signs and neurological evaluation before and after Miglustat therapy

Patient	Age at onset of symptoms	Age at Miglustat initiation	Age at last follow‐up during Miglustat therapy	Symptoms and signs		Neurological evaluation
				Before Miglustat therapy	After Miglustat therapy	Before Miglustat therapy	After Miglustat therapy
1	11 months	20 months	5 years	Thoracolumbar kyphosis and vertebral beaking (D11 to L4) at X‐ray Abdominal cystic lymphangioma	Significant improvement of the thoracic hyperkyphosis and stable appearance of the vertebral anomalies	Normal neurological assessment Normal WPPSI‐III in verbal and performance IQ scores	WPPSI‐III: mild worsening in fine motor skills and language
2	5 years	10 years and 5 months	16 years	Developmental regression Attention deficit Dysarthria Extrapyramidal symptoms Atypical absences Diffuse platyspondyly with mild anterior wedging of the lumbar vertebrae at Spinal MRI and X‐ray	Stable	Severe dysarthria Attention deficit Mild hypotonia Brisk reflex with mild bilateral clonus Awkwardness Bradykinesia with freezing Gait ataxia Severe cognitive impairment (IQ of 34 at WISC‐III Scale) and EDSS score of 7.5	Stable motor and cognitive impairment
3	5 years	3 years and 8 months	10 years and 5 months	Asymptomatic	Dysarthria Attention deficit Diffuse platyspondyly with anterior wedging of the lumbar vertebrae at X‐ray Epileptic alterations at EEG during sleep	Normal	Moderate intellectual disability Clumsiness Dysarthria Significative hyperkinesia Attention deficit Behavioral problems with heteroaggressivity Psychomotor agitation outbursts EDSS score of 5.
4	18 months	2 years and 9 months	6 years and 7 months	Hypotonia Delayed psychomotor development Steppage gait Slightly coarse facies (downturned corners of the mouth, convergent strabismus of the left eye, and open bite with sialorrhea)	Total regression of language Pyramidal and extrapyramidal signs Seizures Severe intellectual disability Total gross and fine motor regression	Hypotonia Delayed psychomotor development Steppage gait	Total regression of language Pyramidal and extrapyramidal signs Severe intellectual disability Total gross and fine motor regression