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Disease Information for Gangliosidosis, generalized (GM1): Clinical Manifestations

Signs & Symptoms: Particular physiognomy/Odd looking kids
: Broad flat nose/facies; Craniofacial Abnormalities/Congenital; Facial grimacing; Facies particular; Full Cheeks; Gargoylism-type facies; Long Philtrum/Facies; Prominent Maxilla
: Cardiomegaly/Heart dilatation
: Rash hand/foot areas
: Stunted growth
: Scrotal edema/swelling; Swelling of scrotum
: Anorexia in Infant; Dysphagia Progressive; Failure to Thrive; Failure to Thrive Child; Failure to thrive/infant sign; Feeding/Apetite Problems Child; Feeding/swallowing difficulties/infant; Lax abdominal muscles
: Enlarged alveolar process/teeth; Large tongue/macroglossia; Large/protruding jaw/prognathism
: Hepatosplenomegaly; Palpable Liver/Hepatomegaly
: Flexion contractures/extremities; Hypotonia; Newborn/Edema hands/feet dorsum; Proximal muscle weakness
: Ataxia; Babinski's upgoing toes/bilateral; Dysarthria; Dystonia; Infant with exaggerated startle reaction; Mental Deficiency Child; Mental Slowing Deteriation; Motor slowing; Nystagmus; Progressive neurological disorder/signs; Psychomotor regression/infant/child; Seizures; Slow speech; Staggering Gait; Unable to tandem walk/straight line
: Psychomotor retardation
: Bossing forehead,infants; Dysmorphic dwarfism/short stature; Macrocephaly/Large head; Megalocephaly
: Difficulty Talking; Snoring
: Splenomegaly
: Coarsened facial features; Dysmorphic appearance/face; Neonatal edema/anasarca; Short stature; Short stature Child
: Bilateral Eyelid Edema; Cherry red spot/retinal sign; Corneal opacity; Periorbital edema/Puffy eyes; Retinal hemorrhages/sign; Retinal veins tortuous/distended; Vision Loss
: True Vertigo Sign Confirmed
Typical Clinical Presentation: Presentation/Death in childhood
Clinical Presentation & Variations: Presentation/Multiple deformities newborn (odd look)
: Presentation/Progressive dementia Child Infant; Presents/Myoclonus Epilepsy Mental Decline <20
Disease Progression: Course/Chronic disorder; Course/Chronic only; Course/Prognosis bad/usually

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