Total 18 clinical symptoms reported for Sandhoff disease
Abnormality of movement |
An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements.
Synonyms:Abnormality of movement; Movement disorder; Unusual movement |
Very frequent |
Ataxia |
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Synonyms:Cerebellar ataxia |
Very frequent |
Blindness |
Blindness is the condition of lacking visual perception defined as visual perception below 3/60 and/or a visual field of no greater than 10 degrees in radius around central fixation.
Synonyms:Blindness; Total vision loss |
Very frequent |
Cherry red spot of the macula |
Pallor of the perifoveal macula of the retina with appearance of a small circular reddish choroid shape as seen through the fovea centralis due to relative transparancy of the macula.
Synonyms:Macular cherry red spot |
Very frequent |
Failure to thrive |
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Synonyms:Faltering weight; Postnatal failure to thrive; Weight faltering |
Very frequent |
Hearing impairment |
A decreased magnitude of the sensory perception of sound.
Synonyms:Deafness; Hearing defect; Hearing impairment; Hypacusis |
Very frequent |
Kyphosis |
Exaggerated anterior convexity of the thoracic vertebral column.
Synonyms:Gibbus deformity; Hunched back; Hyperkyphosis; Round back |
Very frequent |
Macrocephaly |
Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.
Synonyms:Increased size of cranium; Increased size of skull; Large head; Large head circumference; Macrocrania; Megacephaly |
Very frequent |
Motor deterioration |
Loss of previously present motor (i.e., movement) abilities.
Synonyms:Progressive degeneration of movement |
Very frequent |
Progressive psychomotor deterioration |
Synonyms:Progressive mental and motor deterioration |
Very frequent |
Seizure |
A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Synonyms:Epileptic seizure; Seizures |
Very frequent |