Phenotypes associated with the disease Proximal myopathy with extrapyramidal signs (ORPHA:401768, an Orphanet rare-disease identifier):
- Global developmental delay (HP:0001263, a Human Phenotype Ontology term): 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. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:401768)
- Gait disturbance (HP:0001288, a Human Phenotype Ontology term): The term gait disturbance can refer to any disruption of the ability to walk. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:401768)
- 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: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:401768)
- 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: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:401768)
- Orofacial dyskinesia (HP:0002310, a Human Phenotype Ontology term). Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:401768)
- 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: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:401768)
- Increased variability in muscle fiber diameter (HP:0003557, a Human Phenotype Ontology term): An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:401768)
- Centrally nucleated skeletal muscle fibers (HP:0003687, a Human Phenotype Ontology term): An abnormality in which the nuclei of sarcomeres take on an abnormally central localization (or in which this feature is found in an increased proportion of muscle cells). Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:401768)
- Proximal muscle weakness (HP:0003701, a Human Phenotype Ontology term): A lack of strength of the proximal muscles. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:401768)
- Involuntary movements (HP:0004305, a Human Phenotype Ontology term): Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:401768)
- Progressive extrapyramidal movement disorder (HP:0007153, a Human Phenotype Ontology term). Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:401768)
- Progressive extrapyramidal muscular rigidity (HP:0007158, a Human Phenotype Ontology term): A progressive degree of muscular rigidity (continuous contraction of muscles with constant resistance to passive movement). Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:401768)
- Difficulty running (HP:0009046, a Human Phenotype Ontology term): Reduced ability to run. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:401768)
- Abnormal basal ganglia MRI signal intensity (HP:0012751, a Human Phenotype Ontology term): A deviation from normal signal on magnetic resonance imaging (MRI) of the basal ganglia. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:401768)
- Central core regions in muscle fibers (HP:0030230, a Human Phenotype Ontology term): The presence of disorganized areas called cores in the center of muscle fibers. There is a typical appearance of the biopsy on light microscopy, where the muscle cells have cores that are devoid of mitochondria and specific enzymes. Cores are typically well demarcated and centrally located, but may occasionally be multiple and of eccentric. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:401768)
- Microcephaly (HP:0000252, a Human Phenotype Ontology term): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:401768)
- Ptosis (HP:0000508, a Human Phenotype Ontology term): The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective). Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:401768)
- Ophthalmoplegia (HP:0000602, a Human Phenotype Ontology term): Paralysis of one or more extraocular muscles that are responsible for eye movements. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:401768)
- 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: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:401768)
- 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: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:401768)
- Peripheral axonal neuropathy (HP:0003477, a Human Phenotype Ontology term): An abnormality characterized by disruption of the normal functioning of peripheral axons. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:401768)
- Mildly elevated creatine kinase (HP:0008180, a Human Phenotype Ontology term). Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:401768)
Not associated with this disease:
- Hearing impairment (HP:0000365, a Human Phenotype Ontology term): A decreased magnitude of the sensory perception of sound. Evidence: TAS. (ORPHA:401768)
- Insulin-resistant diabetes mellitus (HP:0000831, a Human Phenotype Ontology term): A type of diabetes mellitus related not to lack of insulin but rather to lack of response to insulin on the part of the target tissues of insulin such as muscle, fat, and liver cells. This type of diabetes is typically associated with increases both in blood glucose concentrations as well as in fasting and postprandial serum insulin levels. Evidence: TAS. (ORPHA:401768)
- Cardiomyopathy (HP:0001638, a Human Phenotype Ontology term): A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality. Evidence: TAS. (ORPHA:401768)