Question: What is (are) Spinocerebellar ataxia 15 ?
Answer: Spinocerebellar ataxia 15 (SCA15) is a neurological condition characterized by slowly progressive gait and limb ataxia, often in combination with eye movement abnormalities and balance, speech and swallowing difficulties. The onset of symptoms typically occurs between ages 7 and 66 years. The ability to walk independently is often maintained for many years following onset of symptoms. SCA15 is caused by mutations in the ITPR1 gene. It is inherited in an autosomal dominant manner. Diagnosis is based on clinical history, physical examination, molecular genetic testing, and exclusion of other similar diseases. There is no effective treatment known to modify disease progression. Patients may benefit from occupational and physical therapy for gait dysfunction and speech therapy for dysarthria.
Source: GARD

Question: What are the symptoms of Spinocerebellar ataxia 15 ?
Answer: What are the signs and symptoms of Spinocerebellar ataxia 15? Spinocerebellar ataxia 15 (SCA15) is characterized by slowly progressive gait and limb ataxia, often in combination with ataxic dysarthria, titubation, upper limb postural tremor (which occurs when a person tries to maintain a position against gravity, such as holding the arms outstretched), mild hyperreflexia (exaggerated reflexes), gaze-evoked nystagmus, and impaired vestibulo-ocular reflex gain (an inability to stabilize the eyes during small head tremors, which makes it difficult to read, etc.). Mild dysphagia and movement-induced oscillopsia (a bouncing and blurring of vision) have been observed in some patients. Symptoms typically present between the ages of 7 and 66 years. Gait ataxia and tremor are often the first noticeable symptoms. The ability to walk independently may be maintained for many years (or even decades) following onset of symptoms. The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 15. 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 - Autosomal dominant inheritance - Cerebellar atrophy - Dysarthria - Dysmetric saccades - Gait ataxia - Gaze-evoked horizontal nystagmus - Hyperreflexia - Impaired smooth pursuit - Juvenile onset - Limb ataxia - Postural tremor - Scanning speech - Slow progression - Truncal ataxia - 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