Phenotypes associated with the disease myoclonic dystonia 11 (OMIM:159900):
- Decreased CSF homovanillic acid concentration (HP:0003785): Decreased concentration of homovanillic acid (HVA) in the cerebrospinal fluid. HVA is a metabolite of dopamine. Evidence: PCS. Frequency: 1/4. (PMID:28949039)
- Torticollis (HP:0000473): Involuntary contractions of the neck musculature resulting in an abnormal posture of or abnormal movements of the head. Evidence: PCS. Frequency: 40/41. (PMID:11528394;PMID:28949039)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 25/41. (PMID:11528394;PMID:28949039)
- Writer's cramp (HP:0002356): 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: 21/37. (PMID:11528394)
- Axial dystonia (HP:0002530): A type of dystonia that affects the midline muscles, i.e., the chest, abdominal, and back muscles. Evidence: PCS. Frequency: 1/4. (PMID:28949039)
- Decreased CSF 5-hydroxyindoleacetic acid concentration (HP:0020020): The concentration of 5-hydroxyindoleacetic acid in the cerebrospinal fluid (CSF) is below the lower limit of normal. Evidence: PCS. Frequency: 4/4. (PMID:28949039)
- Leg dystonia (HP:0031959): A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the legs. Evidence: PCS. Frequency: 1/4. (PMID:28949039)
- Panic attack (HP:0025269): A sudden episode of intense fear in a situation where there is no danger or apparent cause. Evidence: PCS. Frequency: 4/37. (PMID:11528394)
- Increased serum serotonin (HP:0003144): A increased concentration of serotonin in the blood. Evidence: PCS. Frequency: 0/3. (PMID:28949039)
- Hypotonia (HP:0001252): 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: TAS. Frequency: Occasional (HP:0040283). (OMIM:159900)
- Arm dystonia (HP:0031960): A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the arms. Evidence: PCS. Frequency: 2/4. (PMID:28949039)
- Addictive alcohol use (HP:0030955): An addictive behavior is defined as drinking excessive amounts of alcohol over a prolonged period of time, having difficulty in reducing the amount of alcohol consumed, strongly desiring alcohol, and experiencing withdrawal symptoms when not drinking alcohol. Evidence: PCS. Frequency: 3/39. (PMID:11528394;PMID:28949039)
- Limb myoclonus (HP:0045084). Evidence: PCS. Frequency: 4/4. (PMID:28949039)
- Depression (HP:0000716): 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:28949039)
- Obsessive-compulsive trait (HP:0008770): The presence of one or more obsessive-compulsive personality traits. Obsessions refer to persistent intrusive thoughts, and compulsions to intrusive behaviors, which the affected person experiences as involuntary, senseless, or repugnant. Evidence: PCS. Frequency: 0/2. (PMID:28949039)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 16/41. (PMID:11528394;PMID:28949039)
- Anxiety (HP:0000739): 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: 4/41. (PMID:11528394;PMID:28949039)
- Typified by incomplete penetrance (HP:0003829): Description of conditions in which not all individuals with a given genotype exhibit the disease. Penetrance is the proportion that develop disease given a lifespan of 80 years. Evidence: PCS. (PMID:11528394)
- Agoraphobia (HP:0000756): A type of anxiety disorder characterized by the avoidance of public places, especially where crowds gather. Evidence: IEA. (OMIM:159900)
- Compulsive behaviors (HP:0000722): Behavior that consists of repetitive acts, characterized by the feeling that one "has to" perform them, while being aware that these acts are not in line with one's overall goal. Evidence: PCS. Frequency: 1/37. (PMID:11528394)
- Autosomal dominant inheritance (HP:0000006): 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:11528394)
- Tremor (HP:0001337): An unintentional, oscillating to-and-fro muscle movement about a joint axis. Evidence: IEA. (OMIM:159900)
- Myoclonus (HP:0001336): Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements. Evidence: PCS. Frequency: 37/37. (PMID:11528394)