Question: What is (are) Spinocerebellar ataxia 3 ?
Answer: Spinocerebellar ataxia 3 is a rare movement disorder that is characterized by ataxia, clumsiness and weakness in the arms and legs, spasticity, a staggering lurching walk easily mistaken for drunkenness, difficulty with speech and swallowing, and involuntary eye movements sometimes accompanied by double vision, and bulging eyes. Some patients have dystonia or symptoms similar to those of Parkinson's disease. Others have twitching of the face or tongue, neuropathy, or problems with urination and the autonomic nervous system. Symptoms can begin any time between childhood and about 70 years of age. Spinocerebellar ataxia 3 is a progressive disease, meaning that symptoms get worse with time. Life expectancy ranges from the mid-thirties for those with severe forms of the disorder to a normal life expectancy for those with mild forms. Spinocerebellar ataxia is inherited in an autosomal dominant pattern and is caused by a trinucleotide repeat expansion in the ataxin-3 gene (ATXN3).
Source: GARD

Question: What are the symptoms of Spinocerebellar ataxia 3 ?
Answer: What are the signs and symptoms of Spinocerebellar ataxia 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 3. 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) Dysautonomia 7.5% Ataxia 57/57 Gaze-evoked nystagmus 15/20 External ophthalmoplegia 34/57 Dysarthria 30/57 Spasticity 62/139 Dystonia 17/57 Fasciculations 12/57 Parkinsonism 3/57 Absent Achilles reflex - Autosomal dominant inheritance - Babinski sign - Bradykinesia - Cerebellar atrophy - Chronic pain - Dementia - Dilated fourth ventricle - Diplopia - Distal amyotrophy - Dysmetric saccades - Dysphagia - Facial-lingual fasciculations - Genetic anticipation - Gliosis - Impaired horizontal smooth pursuit - Limb ataxia - Muscle cramps - Postural instability - Progressive - Progressive cerebellar ataxia - Proptosis - Ptosis - Rigidity - Spinocerebellar tract degeneration - Supranuclear ophthalmoplegia - Truncal ataxia - Urinary bladder sphincter dysfunction - 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