- Abolished vibration sense (HP:0006944, a Human Phenotype Ontology term): A complete loss of the ability to perceive vibration. Evidence: PCS. Frequency: 1/1. (PMID:40166812)
- Freezing of gait (HP:0031825, a Human Phenotype Ontology term): Freezing of gait is defined as a brief, episodic absence or marked reduction of forward progression of the feet despite the intention to walk. Evidence: PCS. Frequency: 1/1. (PMID:41092193)
- Bradykinesia (HP:0002067, a Human Phenotype Ontology term): Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement). Evidence: PCS. Frequency: 4/6. (PMID:41092193)
- Mild intellectual disability (HP:0001256, a Human Phenotype Ontology term): Mild intellectual disability (ID) is defined as a type of ID characterized by mildly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 50-69. Evidence: PCS. Frequency: 1/1. (PMID:41492970)
- Middle age onset (HP:0003596, a Human Phenotype Ontology term): A type of adult onset with onset of symptoms at the age of 40 to 60 years. Evidence: PCS. Frequency: 6/15. (PMID:41492970;PMID:41092193)
- Short stature (HP:0004322, a Human Phenotype Ontology term): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: PCS. Frequency: 0/8. (PMID:40166812)
- Gait ataxia (HP:0002066, a Human Phenotype Ontology term): 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. Evidence: PCS. Frequency: 14/14. (PMID:40166812;PMID:41092193)
- Somatic sensory dysfunction (HP:0003474, a Human Phenotype Ontology term): An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hypesthesia) refers to a reduction in cutaneous sensation to a specific type of testing. Evidence: PCS. Frequency: 0/13. (PMID:41492970;PMID:41092193)
- Rigidity (HP:0002063, a Human Phenotype Ontology term): Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity. Evidence: PCS. Frequency: 4/6. (PMID:41092193)
- Spastic gait (HP:0002064, a Human Phenotype Ontology term): Spasticity is manifested by increased stretch reflex which is intensified with movement velocity. This results in excessive and inappropriate muscle activation which can contribute to muscle hypertonia. Spastic gait is characterized by manifestations such as muscle hypertonia, stiff knee, and circumduction of the leg. Evidence: PCS. Frequency: 5/8. (PMID:41492970)
- Ataxia (HP:0001251, a Human Phenotype Ontology term): Ataxia refers to impaired coordination of voluntary muscle movement. 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). Evidence: PCS. Frequency: 7/7. (PMID:40166812)
- Lower limb spasticity (HP:0002061, a Human Phenotype Ontology term): Spasticity (velocity-dependent increase in tonic stretch reflexes with increased muscle tone and hyperexcitable tendon reflexes) in the muscles of the lower limbs, hips, and pelvis. Evidence: PCS. Frequency: 1/13. (PMID:40166812)
- Facial shape deformation (HP:0011334, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 0/8. (PMID:40166812)
- Impaired executive functioning (HP:0033051, a Human Phenotype Ontology term): A disturbance of executive functioning, which is broadly defined as the set of abilities that allow for the planning, executing, monitoring, and self-correcting of goal-directed behavior while inhibiting task-irrelevant behavior. At least some degree of executive skill is needed to complete most cognitive tasks, and deficits in executive abilities are central to many clinical conditions, including fronto-temporal dementia. Evidence: PCS. Frequency: 1/1. (PMID:41092193)
- Nystagmus (HP:0000639, a Human Phenotype Ontology term): Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. Evidence: PCS. Frequency: 19/22. (PMID:40166812;PMID:41092193)
- Depression (HP:0000716, a Human Phenotype Ontology term): Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior. Evidence: PCS. Frequency: 2/2. (PMID:41492970;PMID:40166812)
- Young adult onset (HP:0011462, a Human Phenotype Ontology term): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 6/15. (PMID:41492970;PMID:41092193)
- Hyporeflexia of upper limbs (HP:0012391, a Human Phenotype Ontology term): Reduced intensity of muscle tendon reflexes in the upper limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping. Evidence: PCS. Frequency: 2/14. (PMID:41492970;PMID:41092193)
- Constipation (HP:0002019, a Human Phenotype Ontology term): Infrequent or difficult evacuation of feces. Evidence: PCS. Frequency: 1/1. (PMID:41092193)
- Intellectual disability (HP:0001249, a Human Phenotype Ontology term): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: PCS. Frequency: 0/1. (PMID:41492970)
- Skeletal muscle atrophy (HP:0003202, a Human Phenotype Ontology term): The presence of skeletal muscular atrophy (which is also known as amyotrophy). Evidence: PCS. Frequency: 0/19. (PMID:40166812;PMID:41092193)
- Upgaze palsy (HP:0025331, a Human Phenotype Ontology term): A limitation of the ability to direct one's gaze above the horizontal meridian. Evidence: PCS. Frequency: 1/1. (PMID:41092193)
- Writer's cramp (HP:0002356, a Human Phenotype Ontology term): A focal dystonia of the fingers, hand, and/or forearm that appears when the affected person attempts to do a task that requires fine motor movements such as writing or playing a musical instrument. Evidence: PCS. Frequency: 1/1. (PMID:41092193)
- Diplopia (HP:0000651, a Human Phenotype Ontology term): Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision. Evidence: PCS. Frequency: 1/1. (PMID:41092193)
- Memory impairment (HP:0002354, a Human Phenotype Ontology term): An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness. Evidence: PCS. Frequency: 2/2. (PMID:41092193)
- Babinski sign (HP:0003487, a Human Phenotype Ontology term): Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract. Evidence: PCS. Frequency: 2/14. (PMID:41492970;PMID:41092193)
- Lower limb hyperreflexia (HP:0002395, a Human Phenotype Ontology term): Increased intensity of the a reflex in the leg. Evidence: PCS. Frequency: 5/8. (PMID:41492970)
- Upper limb muscle weakness (HP:0003484, a Human Phenotype Ontology term): Weakness of the muscles of the arms. Evidence: PCS. Frequency: 1/14. (PMID:40166812)
- Migraine (HP:0002076, a Human Phenotype Ontology term): Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms. Evidence: PCS. Frequency: 2/2. (PMID:40166812)
- Dysarthria (HP:0001260, a Human Phenotype Ontology term): 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. Evidence: PCS. Frequency: 16/22. (PMID:40166812;PMID:41092193)
- Dementia (HP:0000726, a Human Phenotype Ontology term): A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior. Evidence: PCS. Frequency: 0/13. (PMID:40166812)
- Autistic behavior (HP:0000729, a Human Phenotype Ontology term): Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior. Evidence: PCS. Frequency: 3/3. (PMID:41492970)
- Temporal cortical atrophy (HP:0007112, a Human Phenotype Ontology term): Atrophy of the temporal cortex. Evidence: PCS. Frequency: 1/1. (PMID:41492970)
- Hyposmia (HP:0004409, a Human Phenotype Ontology term): A decreased sensitivity to odorants (that is, a decreased ability to perceive odors). Evidence: PCS. Frequency: 2/2. (PMID:41092193)
- Parkinsonism with favorable response to dopaminergic medication (HP:0002548, a Human Phenotype Ontology term): Parkinsonism is a clinical syndrome that is a feature of a number of different diseases, including Parkinson disease itself, other neurodegenerative diseases such as progressive supranuclear palsy, and as a side-effect of some neuroleptic medications. Some but not all individuals with Parkinsonism show responsiveness to dopaminergic medication defined as a substantial reduction of amelioration of the component signs of Parkinsonism (including mainly tremor, bradykinesia, rigidity, and postural instability) upon administration of dopaminergic medication. Evidence: PCS. Frequency: 3/3. (PMID:41092193)
- Loss of ambulation (HP:0002505, a Human Phenotype Ontology term): Inability to walk in a person who previous had the ability to walk. Evidence: PCS. Frequency: 3/3. (PMID:41492970)
- REM sleep behavior disorder (HP:5200291, a Human Phenotype Ontology term): REM Sleep Behavior Disorder (RBD) is a chronic sleep condition characterized by dream enactment and loss of REM atonia. Evidence: PCS. Frequency: 2/2. (PMID:41092193)
- Spasticity (HP:0001257, a Human Phenotype Ontology term): A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes. Evidence: PCS. Frequency: 1/6. (PMID:41092193)
- Tremor (HP:0001337, a Human Phenotype Ontology term): An unintentional, oscillating to-and-fro muscle movement about a joint axis. Evidence: PCS. Frequency: 3/8. (PMID:41492970;PMID:41092193)
- Head tremor (HP:0002346, a Human Phenotype Ontology term): An unintentional, oscillating to-and-fro muscle movement affecting head movement. Evidence: PCS. Frequency: 4/5. (PMID:41492970)
- Upper limb spasticity (HP:0006986, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 0/13. (PMID:40166812)
- Autosomal dominant inheritance (HP:0000006, a Human Phenotype Ontology term): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:40166812)
- Resting tremor (HP:0002322, a Human Phenotype Ontology term): A resting tremor occurs when muscles are at rest and becomes less noticeable or disappears when the affected muscles are moved. Resting tremors are often slow and coarse. Evidence: PCS. Frequency: 2/5. (PMID:41092193)
- Borderline intellectual disability (HP:0006889, a Human Phenotype Ontology term): Borderline intellectual disability is defined as an intelligence quotient (IQ) in the range of 70-85. Evidence: PCS. Frequency: 1/1. (PMID:41492970)
- Orthostatic hypotension (HP:0001278, a Human Phenotype Ontology term): A form of hypotension characterized by a sudden fall in blood pressure that occurs when a person assumes a standing position. Evidence: PCS. Frequency: 1/1. (PMID:41092193)
- Cerebral cortical atrophy (HP:0002120, a Human Phenotype Ontology term): Atrophy of the cortex of the cerebrum. Evidence: PCS. Frequency: 3/3. (PMID:41092193)
- Cerebellar atrophy (HP:0001272, a Human Phenotype Ontology term): 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. Evidence: PCS. Frequency: 21/21. (PMID:41492970;PMID:40166812)
- Saccadic smooth pursuit interruptions (HP:0001152, a Human Phenotype Ontology term): An abnormality of tracking eye movements in which smooth pursuit is interrupted by an abnormally high number of saccadic movements. Evidence: PCS. Frequency: 20/21. (PMID:41492970;PMID:40166812)
- Slurred speech (HP:0001350, a Human Phenotype Ontology term): Abnormal coordination of muscles involved in speech. Evidence: PCS. Frequency: 8/8. (PMID:41492970)
- Limb muscle weakness (HP:0003690, a Human Phenotype Ontology term): Reduced strength and weakness of the muscles of the arms and legs. Evidence: PCS. Frequency: 0/6. (PMID:41092193)
- Intention tremor (HP:0002080, a Human Phenotype Ontology term): 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). Evidence: PCS. Frequency: 7/13. (PMID:40166812)
- Cognitive impairment (HP:0100543, a Human Phenotype Ontology term): Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering. Evidence: PCS. Frequency: 1/4. (PMID:41092193)
- Hallucinations (HP:0000738, a Human Phenotype Ontology term): Perceptions in a conscious and awake state that, in the absence of external stimuli, have qualities of real perception. These perceptions are vivid, substantial, and located in external objective space. Evidence: PCS. Frequency: 2/2. (PMID:41492970;PMID:41092193)
- Irritability (HP:0000737, a Human Phenotype Ontology term): An emotional state characterized by negative feelings of heightened frustration, annoyance, or feeling upset, often triggered by internal factors (e.g., fatigue, hunger, unfulfilled desires) or external factors (e.g., social or environmental challenges). Irritability may be unpredictable, and is accompanied by a lowered threshold for emotional reactivity and observable features (speech, facial expressions, or psychomotor activity). Evidence: PCS. Frequency: 2/2. (PMID:41492970;PMID:41092193)
- Lower limb muscle weakness (HP:0007340, a Human Phenotype Ontology term): Weakness of the muscles of the legs. Evidence: PCS. Frequency: 1/13. (PMID:40166812)
- Anxiety (HP:0000739, a Human Phenotype Ontology term): Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control. Evidence: PCS. Frequency: 2/2. (PMID:41092193)
- Reduced visual acuity (HP:0007663, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 1/1. (PMID:41092193)
- Unsteady gait (HP:0002317, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 10/10. (PMID:41492970;PMID:40166812)
- Brisk reflexes (HP:0001348, a Human Phenotype Ontology term): Tendon reflexes that are noticeably more active than usual (conventionally denoted 3+ on clinical examination). Brisk reflexes may or may not indicate a neurological lesion. They are distinguished from hyperreflexia by the fact that hyerreflexia is characterized by hyperactive repeating (clonic) reflexes, which are considered to be always abnormal. Evidence: PCS. Frequency: 12/18. (PMID:40166812;PMID:41092193)
- Cerebellar vermis atrophy (HP:0006855, a Human Phenotype Ontology term): Wasting (atrophy) of the vermis of cerebellum. Evidence: PCS. Frequency: 2/2. (PMID:41092193)
- Limb tremor (HP:0200085, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 1/3. (PMID:41492970)
- Dysphagia (HP:0002015, a Human Phenotype Ontology term): Difficulty in swallowing. Evidence: PCS. Frequency: 10/20. (PMID:40166812;PMID:41092193)
- Hand tremor (HP:0002378, a Human Phenotype Ontology term): An unintentional, oscillating to-and-fro muscle movement affecting the hand. Evidence: PCS. Frequency: 1/1. (PMID:41092193)
- Broad-based gait (HP:0002136, a Human Phenotype Ontology term): An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia. Evidence: PCS. Frequency: 8/8. (PMID:41492970)
- Exophoria (HP:0025313, a Human Phenotype Ontology term): A form of strabismus with one or both eyes deviated outward to a milder degree than with exotropia. Evidence: PCS. Frequency: 1/1. (PMID:41092193)
- Impaired vibratory sensation (HP:0002495, a Human Phenotype Ontology term): A decrease in the ability to perceive vibration. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to bony prominences such as the malleoli at the ankles or the metacarpal-phalangeal joints. There is a slow decay of vibration from the tuning fork. The degree of vibratory sense loss can be crudely estimated by counting the number of seconds that the examiner can perceive the vibration longer than the patient. Evidence: PCS. Frequency: 1/1. (PMID:41092193)
- Late onset (HP:0003584, a Human Phenotype Ontology term): A type of adult onset with onset of symptoms after the age of 60 years. Evidence: PCS. Frequency: 3/6. (PMID:41092193)
- Decreased Achilles reflex (HP:0009072, a Human Phenotype Ontology term): Decreased intensity of the Achilles reflex (also known as the ankle jerk reflex), which can be elicited by tapping the tendon is tapped while the foot is dorsiflexed. Evidence: PCS. Frequency: 1/11. (PMID:40166812)
- Visual impairment (HP:0000505, a Human Phenotype Ontology term): Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery. Evidence: PCS. Frequency: 2/18. (PMID:40166812;PMID:41092193)
- Horizontal nystagmus (HP:0000666, a Human Phenotype Ontology term): Nystagmus consisting of horizontal to-and-fro eye movements. Evidence: PCS. Frequency: 8/8. (PMID:41492970)
- Areflexia of lower limbs (HP:0002522, a Human Phenotype Ontology term): Inability to elicit tendon reflexes in the lower limbs. Evidence: PCS. Frequency: 1/12. (PMID:40166812)
- Hyporeflexia of lower limbs (HP:0002600, a Human Phenotype Ontology term): Reduced intensity of muscle tendon reflexes in the lower limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping. Evidence: PCS. Frequency: 1/8. (PMID:41492970)
These phenotypes are associated with the disease spinocerebellar ataxia 52 (OMIM:621535, an entry in Online Mendelian Inheritance in Man).