Table 1 Clinical features of SD subtypes [5, 6]
From: Clinical and genetic features of a case with juvenile onset sandhoff disease
Subtypes of SD | Onset age | Clinical features | Neuroimaging |
|---|---|---|---|
Infantile onset | Before the age of 12 months | Most common subtype, acute onset, psychomotor retardation, seizures, blindness, early death blindness and cherry-red spots in the eyes | Bilateral thalamic and basal ganglia abnormal signals |
Juvenile onset | 1–18 years old | Gait disturbances, speech problems, incoordination, pyramidal signs, muscle wasting, intellectual impairment, dysphagia, seizures, and proximal or distal weakness | Cerebellar/cerebral atrophy |
Adult onset | After 18 years old | Motor neuron disease, ataxia (spinocerebellar), tremor (mainly postural), dystonia, psychiatric symptoms, and neuropathy (sensorimotor or autonomic) | Cerebellar/cerebral atrophy |