| HPO |
HP:0007240 |
Progressive gait ataxia |
"A type of gait ataxia displaying progression of clinical severity." [HPO:probinson] |
— |
HP:0002066 |
| HPO |
HP:0002078 |
Truncal ataxia |
"Truncal ataxia is a sign of ataxia characterized by instability of the trunk. It usually occurs during sitting." [HPO:probinson, UKT:rschuele] |
Truncal ataxia is generally caused by midline damage to the cerebellar vermis and associated pathways. Patients with truncal ataxia may not be able to sit or stand without support. |
HP:0001251 |
| HPO |
HP:0001257 |
Spasticity |
"A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes." [HPO:probinson] |
— |
HP:0001276, HP:0002493 |
| HPO |
HP:0001347 |
Hyperreflexia |
"Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles." [HPO:probinson] |
Reflexes are graded according to the following scale: 0=absent; 1=present but diminished; 2=normoactive; 3=exaggerated; and 4=clonus. Clonus is always abnormal, and a grade 3 reflex may be abnormal if it is asymmetric or if it was previously grade 2 or less. |
HP:0031826 |
| HPO |
HP:0000666 |
Horizontal nystagmus |
"Nystagmus consisting of horizontal to-and-fro eye movements." [HPO:probinson] |
— |
HP:0000639 |
| HPO |
HP:0001272 |
Cerebellar atrophy |
"Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event." [HPO:probinson, PMID:12169461, PMID:26331051] |
Cerebellar atrophy can be diagnosed if the cerebellum is small with shrunken folia and large cerebellar fissures or if it has been shown to undergo progressive volume loss. |
HP:0001317 |
| HPO |
HP:0001256 |
Intellectual disability, mild |
"Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69." [HPO:probinson] |
— |
HP:0001249 |
| HPO |
HP:0001310 |
Dysmetria |
"A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements." [HPO:probinson] |
Dysmetria can result in moving beyond the target (hypermetria) or failing to reach the target (hypometria) during a voluntary movement. Dysmetria can be assessed clinically by the finger chase test, whereby the examiner and the proband are sitting, and the examiner suddenly moves his or her finger five times in an unpredictable direction in a frontal plane, with movements having an amplitude of about 30 cm and a frequency of once every two seconds. The proband is asked to follow the movements with his or her index finger. The test is abnormal if the proband substantially under- or overshoots or cannot perform pointing movements at all. The finger-nose-finger test is similar, and the proband is asked to alternately touch his or her own nose and then to point to the finger of the examiner. |
HP:0001251 |
| HPO |
HP:0008003 |
Jerky ocular pursuit movements |
— |
— |
HP:0000617 |
| HPO |
HP:0000641 |
Dysmetric saccades |
"The controller signal for saccadic eye movements has two components: the pulse that moves the eye rapidly from one point to the next, and the step that holds the eye in the new position. When both the pulse and the step are not the correct size, a dysmetric refixation eye movement results." [HPO:probinson, PMID:572501] |
— |
HP:0000570 |
| HPO |
HP:0002075 |
Dysdiadochokinesis |
"A type of ataxia characterized by the impairment of the ability to perform rapidly alternating movements, such as pronating and supinating his or her hand on the dorsum of the other hand as rapidly as possible." [HPO:probinson, HPO:zaferyueksel, UKB:tklockgether] |
Inability to perform rapid, alternating movements. Dysdiadochokinesis is generally related to a cerebellar lesion. |
HP:0001251 |
| HPO |
HP:0000651 |
Diplopia |
"Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision." [HPO:probinson] |
— |
HP:0011514 |
| HPO |
HP:0002080 |
Intention tremor |
"A type of kinetic tremor that occurs during target directed movement is called intention tremor. That is, an oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient's nose or a physician's finger)." [HPO:probinson, PMID:16344298] |
— |
HP:0030186 |
| HPO |
HP:0000750 |
Delayed speech and language development |
"A degree of language development that is significantly below the norm for a child of a specified age." [HPO:probinson] |
Language delay can be characterized by a failure to meet the developmental milestones for language development, an inability to follow directions, or slow or incomprehensible speech after the age of three years, as well as with severe problems with syntax or articulation. |
HP:0002167, HP:0002463, HP:0012758 |
| HPO |
HP:0001260 |
Dysarthria |
"Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed." [HPO:curators] |
— |
HP:0002167 |
| HPO |
HP:0002073 |
Progressive cerebellar ataxia |
— |
— |
HP:0001251 |
| HPO |
HP:0000486 |
Strabismus |
"A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error." [HPO:probinson, PMID:26319345, UManchester:psergouniotis] |
— |
HP:0000549 |
| HPO |
HP:0001263 |
Global developmental delay |
"A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age." [DDD:hvfirth, HPO:sdoelken] |
Developmental retardation is any significant lag in development in the any or all of the physical, cognitive, behavioral, emotional, or social spheres. Note that the term intellectual disability (mental retardation) refers to not merely a delay in development but rather a permanent limitation. Note that the term 'psychomotor retardation' is also used in some contexts to refer to a slowing of thought and physical movements as a result of major depression or intoxication. |
HP:0012758 |
| HPO |
HP:0001350 |
Slurred speech |
"Abnormal coordination of muscles involved in speech." [DDD:fmunitoni] |
— |
HP:0011443 |
| HPO |
HP:0002066 |
Gait ataxia |
"A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall." [HPO:probinson, UKT:rschuele] |
— |
HP:0001251, HP:0001288 |
| HPO |
HP:0003677 |
Slowly progressive |
"Applies to a disease manifestation that only slowly increases in scope or severity over the course of time." [] |
— |
HP:0003679 |
| HPO |
HP:0002070 |
Limb ataxia |
"A kind of ataxia that affects movements of the extremities." [HPO:probinson] |
Limb ataxia is generally caused by lesions of the cerebellar hemispheres and associated pathways. |
HP:0001251 |
| HPO |
HP:0002075 |
Dysdiadochokinesis |
"A type of ataxia characterized by the impairment of the ability to perform rapidly alternating movements, such as pronating and supinating his or her hand on the dorsum of the other hand as rapidly as possible." [HPO:probinson, HPO:zaferyueksel, UKB:tklockgether] |
Inability to perform rapid, alternating movements. Dysdiadochokinesis is generally related to a cerebellar lesion. |
HP:0001251 |
| HPO |
HP:0002080 |
Intention tremor |
"A type of kinetic tremor that occurs during target directed movement is called intention tremor. That is, an oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient's nose or a physician's finger)." [HPO:probinson, PMID:16344298] |
— |
HP:0030186 |
| HPO |
HP:0000640 |
Gaze-evoked nystagmus |
"Nystagmus made apparent by looking to the right or to the left." [HPO:curators] |
— |
HP:0000639 |