Clinical Signs and Symptoms
ORPHA:845 Tay-Sachs disease
The phenotypic description of this disease is based on an analysis of the biomedical literature and uses the terms of the Human Phenotype Ontology (HPO). Phenotypic abnormalities are presented by order of frequency of occurrence in the patient population, then by alphabetical order inside each frequency group.
- Abnormal enzyme/coenzyme activity HP:0012379
- Abnormality of glycolipid metabolism HP:0010969
- GM2-ganglioside accumulation HP:0003495
- Muscle weakness HP:0001324
- Progressive spasticity HP:0002191
- Skeletal muscle atrophy HP:0003202
Very frequent
- Abnormal thalamic MRI signal intensity HP:0012696
- Aspiration pneumonia HP:0011951
- Behavioral abnormality HP:0000708
- Cherry red spot of the macula HP:0010729
- Clumsiness HP:0002312
- Developmental regression HP:0002376
- Difficulty climbing stairs HP:0003551
- Distal muscle weakness HP:0002460
- Dysarthria HP:0001260
- Dysphagia HP:0002015
- Fasciculations HP:0002380
- Frequent falls HP:0002359
- Gait disturbance HP:0001288
- Gliosis HP:0002171
- Hyperreflexia HP:0001347
- Hypointensity of cerebral white matter on MRI HP:0007103
- Incoordination HP:0002311
- Lower limb muscle weakness HP:0007340
- Muscle spasm HP:0003394
- Poor fine motor coordination HP:0007010
- Postural instability HP:0002172
- Quadriceps muscle atrophy HP:0009050
- Short attention span HP:0000736
- Visual impairment HP:0000505
Frequent
- Abnormality of eye movement HP:0000496
- Absent speech HP:0001344
- Ankle clonus HP:0011448
- Anxiety HP:0000739
- Blindness HP:0000618
- Cerebellar atrophy HP:0001272
- Depression HP:0000716
- Distal upper limb muscle weakness HP:0008959
- Drooling HP:0002307
- Dysmetria HP:0001310
- Dystonia HP:0001332
- Exaggerated startle response HP:0002267
- Focal impaired awareness seizure HP:0002384
- Functional motor deficit HP:0004302
- Gastrostomy tube feeding in infancy HP:0011471
- Generalized hypotonia HP:0001290
- Global brain atrophy HP:0002283
- Hip flexor weakness HP:0012515
- Inability to walk HP:0002540
- Laryngeal dystonia HP:0012049
- Limited elbow extension HP:0001377
- Limited knee extension HP:0003066
- Mania HP:0100754
- Memory impairment HP:0002354
- Myoclonus HP:0001336
- Optic atrophy HP:0000648
- Progressive macrocephaly HP:0004481
- Psychosis HP:0000709
- Seizure HP:0001250
- Speech articulation difficulties HP:0009088
- Tremor HP:0001337
- Typical absence seizure HP:0011147
- Ventriculomegaly HP:0002119
Occasional
- Decerebrate rigidity HP:0025013
- Hearing impairment HP:0000365
- Increased serum beta-hexosaminidase HP:0003333
- Precocious puberty HP:0000826
- Vegetative state HP:0031358
Rare
- Hepatosplenomegaly HP:0001433
Additional information
Further information
Specialised Social Services
Warning
The information provided is based on published scientific articles.
The information provided is estimated for the entire population of patients in routine care. Some phenotypic abnormalities reported here may occur individually with a variable temporality or severity, while others, not listed, may still be encountered. Phenotypic annotations are not yet available for all rare diseases; the annotation process is ongoing.
The information contained in Orphanet is regularly updated. It is possible that discoveries have been made since the last update and have not yet been incorporated.
Professionals are encouraged to always consult the latest scientific publications before making a decision based on the information provided. The information contained in Orphanet is not intended to replace the services of a healthcare professional. Orphanet cannot be held responsible for the deleterious, truncated or erroneous use of any information found in the Orphanet database.