Question: What are the symptoms of Progressive external ophthalmoplegia, autosomal recessive 1 ?
Answer: What are the signs and symptoms of Progressive external ophthalmoplegia, autosomal recessive 1 ? The Human Phenotype Ontology provides the following list of signs and symptoms for Progressive external ophthalmoplegia, autosomal recessive 1 . If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Adult onset 75% Cardiomyopathy 7.5% Dyschromatopsia 5% Optic atrophy 5% Visual impairment 5% Areflexia - Autosomal recessive inheritance - Bradykinesia - Decreased activity of cytochrome C oxidase in muscle tissue - Depression - Distal muscle weakness - Dysarthria - Dysphagia - Dysphonia - Elevated serum creatine phosphokinase - EMG: myopathic abnormalities - Emotional lability - Exercise intolerance - Facial palsy - Gait ataxia - Generalized amyotrophy - Hyporeflexia - Impaired distal proprioception - Impaired distal vibration sensation - Increased CSF protein - Increased variability in muscle fiber diameter - Limb ataxia - Mildly elevated creatine phosphokinase - Mitochondrial myopathy - Mitral regurgitation - Mitral valve prolapse - Multiple mitochondrial DNA deletions - Muscle fiber necrosis - Parkinsonism - Pes cavus - Phenotypic variability - Positive Romberg sign - Progressive external ophthalmoplegia - Proximal muscle weakness - Ptosis - Ragged-red muscle fibers - Respiratory insufficiency due to muscle weakness - Rigidity - Sensory ataxic neuropathy - Sensory axonal neuropathy - Steppage gait - Subsarcolemmal accumulations of abnormally shaped mitochondria - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Source: GARD