Topic: Wolfram syndrome
Question: What are the symptoms of Wolfram syndrome ?
Answer: What are the signs and symptoms of Wolfram syndrome? There are two types of Wolfram syndrome (type 1 and type 2) which have many overlapping features. Wolfram syndrome type 1, which is also known by the acronym DIDMOAD, is characterized by diabetes insipidus (DI), childhood-onset diabetes mellitus (DM), gradual loss of vision due to optic atrophy (OA), and deafness (D). About 65% of affected people will develop all four of these symptoms, while others will only have some of the associated health problems. Other signs and symptoms of Wolfram syndrome type 1 may include: Urinary tract abnormalities Ataxia (problems with coordination and balance) Loss of sense of smell Loss of gag reflex Myoclonus (muscle spasms) Peripheral neuropathy Seizures Depression Impulsive and/or aggressive behavior Psychosis Gastrointestinal problems Intellectual disability Central apnea and central respiratory failure Hypogonadism in males (reduced amounts of the sex hormone testosterone) In addition to the signs and symptoms found in Wolfram syndrome type 1, people with Wolfram syndrome type 2 may also have stomach and/or intestinal ulcers; and a tendancy to bleed excessivly after injuries.   The Human Phenotype Ontology provides the following list of signs and symptoms for Wolfram syndrome. 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) Diabetes insipidus 90% Diabetes mellitus 90% Hearing impairment 90% Optic atrophy 90% Hypoglycemia 50% Incoordination 50% Nephropathy 50% Neurological speech impairment 50% Nystagmus 50% Recurrent urinary tract infections 50% Seizures 50% Visual impairment 50% Abnormality of the autonomic nervous system 7.5% Abnormality of the gastric mucosa 7.5% Abnormality of the genital system 7.5% Anemia 7.5% Apnea 7.5% Cataract 7.5% Cerebral cortical atrophy 7.5% Cognitive impairment 7.5% Congestive heart failure 7.5% Constipation 7.5% Developmental regression 7.5% Feeding difficulties in infancy 7.5% Gastric ulcer 7.5% Gastrointestinal hemorrhage 7.5% Glaucoma 7.5% Hallucinations 7.5% Hypertrophic cardiomyopathy 7.5% Hypothyroidism 7.5% Limitation of joint mobility 7.5% Malabsorption 7.5% Myopathy 7.5% Ophthalmoparesis 7.5% Peripheral neuropathy 7.5% Recurrent respiratory infections 7.5% Reduced consciousness/confusion 7.5% Renal insufficiency 7.5% Respiratory insufficiency 7.5% Retinopathy 7.5% Sleep disturbance 7.5% Abnormal bleeding - Abnormality of the skeletal system - Ataxia - Autosomal recessive inheritance - Behavioral abnormality - Blindness - Cardiomyopathy - Cerebral atrophy - Dysarthria - Dysautonomia - Dysphagia - Growth delay - Hydronephrosis - Hydroureter - Impaired collagen-induced platelet aggregation - Intellectual disability - Limited mobility of proximal interphalangeal joint - Megaloblastic anemia - Neurogenic bladder - Neutropenia - Optic neuropathy - Pigmentary retinopathy - Ptosis - Sensorineural hearing impairment - Sideroblastic anemia - Stroke-like episodes - Testicular atrophy - Thrombocytopenia - Tremor - 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)