Generalized hypotonia is evident but lower limb deep tendon reflexes may be present. Normal developmental milestones are never achieved and patients are unresponsive to their environment. [disorders.eyes.arizona.edu]

• Epilepsy

  Amish infantile epilepsy syndrome | definition of Amish infantile epilepsy syndrome by Medical dictionary https://medical-dictionary.thefreedictionary.com/Amish+infantile+epilepsy+syndrome Amish infantile epilepsy syndrome A rare autosomal recessive, [medical-dictionary.thefreedictionary.com]

  DISEASE: Amish infantile epilepsy syndrome Entry H00996 Disease Name Amish infantile epilepsy syndrome Description Amish infantile epilepsy syndrome is an autosomal recessive, infantile-onset symptomatic epilepsy associated with developmental stagnation [genome.jp]

  Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase. Nat Genet. 2004 Nov;36(11):1225-9. Read more about GM3 Synthase Deficiency [disorders.eyes.arizona.edu]

• Poor Feeding

  Irritability, poor feeding, vomiting and failure to thrive are important features. Generalized hypotonia is evident but lower limb deep tendon reflexes may be present. [disorders.eyes.arizona.edu]

• Developmental Delay

  delays, failure to thrive and blindness. [medical-dictionary.thefreedictionary.com]

• Failure to Thrive

  […] to thrive and blindness. [medical-dictionary.thefreedictionary.com]

  Irritability, poor feeding, vomiting and failure to thrive are important features. Generalized hypotonia is evident but lower limb deep tendon reflexes may be present. [disorders.eyes.arizona.edu]

• Vomiting

  Irritability, poor feeding, vomiting and failure to thrive are important features. Generalized hypotonia is evident but lower limb deep tendon reflexes may be present. [disorders.eyes.arizona.edu]

• Retinal Pigmentation

  ERG amplitudes and retinal pigmentation are normal. Visual impairment is pronounced with no reactions to threatening visual stimuli. Eye movements are random and uncoordinated. [disorders.eyes.arizona.edu]

• Visual Impairment

  Visual impairment is pronounced with no reactions to threatening visual stimuli. Eye movements are random and uncoordinated. Optic atrophy is present but no retinal abnormalities have been reported. [disorders.eyes.arizona.edu]

• Visual Impairment

  Visual impairment is pronounced with no reactions to threatening visual stimuli. Eye movements are random and uncoordinated. Optic atrophy is present but no retinal abnormalities have been reported. [disorders.eyes.arizona.edu]

• Brittle Hair

  Hair Brain Syndrome Amish brittle hair syndrome Amish brittle hair syndrome Amish brittle hair syndrome Amish brittle hair syndrome Amish Christmas Amish Church Amish Church Amish Church Amish Church Amish clip Amish clip Amish clip Amish Country Byway [medical-dictionary.thefreedictionary.com]

• Hyperpigmentation

  These are found among children older than 3 years of age and some parents have reported that the hyperpigmentation may decrease after many years. No such lesions were found in mucosal tissue. [disorders.eyes.arizona.edu]

• Myopathy

  Amish brittle hair syndrome Amish brittle hair syndrome Amish Christmas Amish Church Amish Church Amish Church Amish Church Amish clip Amish clip Amish clip Amish Country Byway Amish infantile epilepsy syndrome Amish lethal microcephaly Amish nemaline myopathy [medical-dictionary.thefreedictionary.com]

• Irritability

  Irritability, poor feeding, vomiting and failure to thrive are important features. Generalized hypotonia is evident but lower limb deep tendon reflexes may be present. [disorders.eyes.arizona.edu]

• Multifocal Epileptiform Discharges

  The EEG shows multifocal epileptiform discharges and brain MRIs show diffuse atrophy in older patients. Hypo- and hyperpigmented skin macules in a 'salt and pepper' pattern, have been described. [disorders.eyes.arizona.edu]

Treatment Treatment Options: There is no known treatment for the enzyme deficiency. Seizures respond poorly to anti-epileptic medications. [disorders.eyes.arizona.edu]