Total 60 clinical symptoms reported for Alexander disease
| Abnormal pyramidal sign |
Functional neurological abnormalities related to dysfunction of the pyramidal tract.
Synonyms:Corticospinal signs; Pyramidal signs; Pyramidal tract signs |
Very frequent |
| Abnormal speech pattern |
An abnormality in the sound (volume) or cadence (rate) of speech.
Synonyms:Abnormal speech; Abnormal vocalization; Abnormality of speech or vocalization |
Very frequent |
| Agenesis of corpus callosum |
Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline.
Synonyms:Absence of corpus callosum; Absent corpus callosum; Agenesis of the corpus callosum; Callosal agenesis; Corpus callosum agenesis; Dysplastic or absent corpus callosum |
Very frequent |
| Clonus |
A series of rhythmic and involuntary muscle contractions (at a frequency of about 5 to 7 Hz) that occur in response to an abruptly applied and sustained stretch.
Synonyms:Involuntary rhythmic muscular contractions and relaxations |
Very frequent |
| Failure to thrive |
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Synonyms:Faltering weight; FTT; Postnatal failure to thrive; Weight faltering |
Very frequent |
| Frontal bossing |
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Synonyms:Frontal protuberance; Skull bossing |
Very frequent |
| Hyperreflexia |
Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.
Synonyms:Increased deep tendon reflexes; Increased reflexes |
Very frequent |
| Intellectual disability |
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Synonyms:Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation |
Very frequent |
| Large face |
Synonyms:Big face; Large face; Large facies |
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; Macrocephalus; Macrocrania; Megacephaly |
Very frequent |
| Megalencephaly |
Diffuse enlargement of the entire cerebral hemispheres leading to macrocephaly (with or without overlying cortical dysplasia).
Synonyms:Macrencephaly |
Very frequent |
| Nausea and vomiting |
Nausea is a commonly encountered symptom that has been defined as an unpleasant painless subjective feeling that one will imminently vomit. Vomiting has been defined as the forceful expulsion of the contents of the stomach, duodenum, or jejunum through the oral cavity. While nausea and vomiting are often thought to exist on a temporal continuum, this is not always the case. There are situations when severe nausea may be present without emesis and less frequently, when emesis may be present without preceding nausea.
Synonyms:Nausea and vomiting |
Very frequent |
| Scoliosis |
The presence of an abnormal lateral curvature of the spine.
|
Very frequent |
| Seizure |
A seizure is an intermittent abnormality of nervous system physiology characterized 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 |
| Sleep abnormality |
An abnormal pattern in the quality, quantity, or characteristics of sleep.
Synonyms:Difficulty sleeping; Sleep disturbance; Sleep disturbances; Sleep dysfunction; Trouble sleeping |
Very frequent |
| Spasticity |
A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.
Synonyms:Involuntary muscle stiffness, contraction, or spasm; Muscle spasticity; Muscular spasticity |
Very frequent |