Table 1.
Disease | Manifestation | Regular symptoms/signs | Facultative symptoms/signs | Remarks |
---|---|---|---|---|
GM1-gangliosidosis | Infantilea,b | Dysmorphic face, severe dysostosis, hepatomegaly, unable to sit, muscle hypotonia, later on spasticity, visual failure, foam cells in bone marrow, oligosacchariduria, mucopolysacchariduria | Cherry-red macular spotc, nystagmus, seizures, splenomegaly, joint contractures, hematologic signs, vacuolated blood lymphocytesd | Rapid or 1–2 year downhill course with psychomotor deterioration, general dystrophy, feeding problems |
Juvenilea | By 4 years or later: dysarthria, extrapyramidal signs including dystonia | Slight intellectual impairment, mild bone changes, foam cells in bone marrow | Some patients have also parts or attenuated forms of the symptoms listed for the infantile disease, other patients belong to the chronic group | |
Adulta | As in juvenile disease, but with more insidious onset | Psychosis | Disease is chronic rather than with only adult manifestation | |
Chronic | Combines late infantile, juvenile, and sometimes adult manifestations in which the above listed symptoms are partly or gradually developed | |||
GM2-gangliosidosis, variants B, B1 and 0 | Infantilee | Loss of head/trunk control, smiling, by about 6 months, cherry-red macular spotc, high startle response to noise, muscle hypotonia by 1 year, epilepsy, tetraparesis with some spasticity, dementia, blindness | Megalencephaly, visceral involvement and oligosacchariduria only in variant 0 | Downhill course mostly less rapid than in early GM1-gangliosidosis |
Juvenile/subacute | Onset by 3 to 6 years, dysarthria, loss of speech, spastic paraparesis, later on paraplegyf, pyramidal signsf, cerebellar ataxia, mental deterioration | Seizures, irritability, psychiatric signs, denervation muscle atrophy (EMG), areflexia, cherry red macular spotc | Clinical variability even in siblingsg, above remark to juvenile GM1-gangliosidosis here also apt | |
Adult | Clumsiness, lower motor neuron disease, denervation muscle atrophy, cerebellar ataxia | Psychosis | High clinical variability, oldest patient was 76 years | |
Chronic | See remark to chronic GM1-gangliosidosis | |||
GM2-gangliosidosis, variant AB | Most as in variants B, B1, 0 | Cherry red macular spotc | No adult patients known |
aGrouping of GM1-gangliosidosis patients as type I, II, and III of the disease according to the age at clinical onset is questionable by the often ambiguous onset or insidious or chronic manifestation through all, except the early infantile, age groups (Lyon et al, 1996b).
bEarlier named “generalized gangliosidosis.”
cSee Fig. 2D.
dSee Fig. 2E.
eEarlier named “infantile amaurotic idiocy”; relatively high prevalence of variant B (Tay–Sachs disease) in Ashkenazim.
fSee Fig. 2A.
gMany patients are Ashkenazim, but a genetic isolate of variant B1 is in Spain.