Phenotypes associated with the disease dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities (OMIM:617282, an entry in Online Mendelian Inheritance in Man):
- Progressive (HP:0003676, a Human Phenotype Ontology term): Applies to a disease manifestation that increases in scope or severity over the course of time, i.e., that worsens with age. Evidence: PCS. (PMID:27817865)
- Dystonia (HP:0001332, a Human Phenotype Ontology term): An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk. Evidence: PCS. Frequency: 12/14. (PMID:27817865)
- 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: 1/7. (PMID:27817865)
- Hypotonia (HP:0001252, a Human Phenotype Ontology term): Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. Evidence: PCS. Frequency: 2/7. (PMID:27817865)
- Pigmentary retinopathy (HP:0000580, a Human Phenotype Ontology term): An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss. Evidence: PCS. Frequency: 1/7. (PMID:27817865)
- 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: 1/7. (PMID:27817865)
- Craniofacial dystonia (HP:0012179, a Human Phenotype Ontology term): A form of focal dystonia affecting the face and especially the jaw that is induced by the act of speaking. It is an involuntary contraction of the masticatory muscles, resulting in dysarthria or dysphagia. Evidence: PCS. Frequency: 3/7. (PMID:27817865)
- 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: 3/7. (PMID:27817865)
- Failure to thrive (HP:0001508, a Human Phenotype Ontology term): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: PCS. Frequency: 1/7. (PMID:27817865)
- Childhood onset (HP:0011463, a Human Phenotype Ontology term): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 5/7. (PMID:27817865)
- Paroxysmal dyskinesia (HP:0007166, a Human Phenotype Ontology term): Episodic bouts of involuntary movements with dystonic, choreic, ballistic movements, or a combination thereof. There is no loss of consciousness during the attacks. Evidence: PCS. Frequency: 1/7. (PMID:27817865)
- Slow saccadic eye movements (HP:0000514, a Human Phenotype Ontology term): An abnormally slow velocity of the saccadic eye movements. Evidence: PCS. Frequency: 1/7. (PMID:27817865)
- Reduced visual acuity (HP:0007663, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 1/7. (PMID:27817865)
- Hyperreflexia (HP:0001347, a Human Phenotype Ontology term): Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles. Evidence: PCS. Frequency: 1/7. (PMID:27817865)
- Juvenile onset (HP:0003621, a Human Phenotype Ontology term): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 2/7. (PMID:27817865)
- Dysphagia (HP:0002015, a Human Phenotype Ontology term): Difficulty in swallowing. Evidence: PCS. Frequency: 2/7. (PMID:27817865)
- Clumsiness (HP:0002312, a Human Phenotype Ontology term): Lack of physical coordination resulting in an abnormal tendency to drop items or bump into objects. Evidence: PCS. Frequency: 1/7. (PMID:27817865)
- Gait disturbance (HP:0001288, a Human Phenotype Ontology term): The term gait disturbance can refer to any disruption of the ability to walk. Evidence: PCS. (PMID:27817865)
- 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: 1/7. (PMID:27817865)
- Limb joint contracture (HP:0003121, a Human Phenotype Ontology term): A contracture (chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin) that prevent normal movement of one or more joints of the limbs. Evidence: PCS. Frequency: 1/7. (PMID:27817865)
- Feeding difficulties (HP:0011968, a Human Phenotype Ontology term): Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it. Evidence: PCS. Frequency: 1/7. (PMID:27817865)
- Esophoria (HP:0025312, a Human Phenotype Ontology term): A form of strabismus with both eyes turned inward to a relatively mild degree, usually defined as less than 10 prism diopters. Evidence: PCS. Frequency: 1/7. (PMID:27817865)
- 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: 14/14. (PMID:27817865)
- Chorea (HP:0002072, a Human Phenotype Ontology term): Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities. Evidence: PCS. Frequency: 2/7. (PMID:27817865)
- Delayed gross motor development (HP:0002194, a Human Phenotype Ontology term): A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling. Evidence: PCS. Frequency: 2/7. (PMID:27817865)
- Dyskinesia (HP:0100660, a Human Phenotype Ontology term): A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements. Evidence: PCS. Frequency: 2/7. (PMID:27817865)
- Autosomal recessive inheritance (HP:0000007, 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:27817865)
- 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: 3/7. (PMID:27817865)
- Optic atrophy (HP:0000648, a Human Phenotype Ontology term): Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy. Evidence: PCS. Frequency: 6/7. Onset: Juvenile onset (HP:0003621, a Human Phenotype Ontology term). (PMID:27817865)
- Optic atrophy (HP:0000648, a Human Phenotype Ontology term): Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy. Evidence: PCS. Frequency: 5/7. (PMID:27817865)
- 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: 1/7. (PMID:27817865)
- Optic disc pallor (HP:0000543, a Human Phenotype Ontology term): A pale yellow discoloration of the optic disc (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression. Evidence: PCS. Frequency: 1/7. (PMID:27817865)
- 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: 1/7. (PMID:27817865)
- Athetosis (HP:0002305, a Human Phenotype Ontology term): A slow, continuous, involuntary writhing movement that prevents maintenance of a stable posture. Athetosis involves continuous smooth movements that appear random and are not composed of recognizable sub-movements or movement fragments. In contrast to chorea, in athetosis, the same regions of the body are repeatedly involved. Athetosis may worsen with attempts at movement of posture, but athetosis can also occur at rest. Evidence: PCS. Frequency: 1/7. (PMID:27817865)
- Involuntary movements (HP:0004305, a Human Phenotype Ontology term): Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face. Evidence: PCS. (PMID:27817865)
- Myoclonus (HP:0001336, a Human Phenotype Ontology term): Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements. Evidence: PCS. Frequency: 2/7. (PMID:27817865)
- Blepharospasm (HP:0000643, a Human Phenotype Ontology term): A focal dystonia that affects the muscles of the eyelids and brow, associated with involuntary recurrent spasm of both eyelids. Evidence: PCS. Frequency: 1/7. (PMID:27817865)