Question: What is (are) Autosomal dominant neuronal ceroid lipofuscinosis 4B ?
Answer: Autosomal dominant neuronal ceroid lipofuscinosis 4B is a form of adult neuronal ceroid lipofuscinosis, which is a rare condition that affects the nervous system. Signs and symptoms usually begin around age 30, but they can develop anytime between adolescence and late adulthood. Affected people generally experience behavioral abnormalities, dementia; difficulties with muscle coordination (ataxia); and involuntary movements such as tremors or tics. It can be caused by changes (mutations) in the DNAJC5 or CTSF gene and is inherited in an autosomal dominant manner. Treatment options are limited to therapies that can help relieve some of the symptoms.
Source: GARD

Question: What are the symptoms of Autosomal dominant neuronal ceroid lipofuscinosis 4B ?
Answer: What are the signs and symptoms of Autosomal dominant neuronal ceroid lipofuscinosis 4B? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal dominant neuronal ceroid lipofuscinosis 4B. 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 - Ataxia - Auditory hallucinations - Autosomal dominant inheritance - Curvilinear intracellular accumulation of autofluorescent lipopigment storage material - Dementia - Depression - Fingerprint intracellular accumulation of autofluorescent lipopigment storage material - Granular osmiophilic deposits (GROD) in cells - Increased neuronal autofluorescent lipopigment - Myoclonus - Parkinsonism - Rapidly progressive - Rectilinear intracellular accumulation of autofluorescent lipopigment storage material - Seizures - Visual hallucinations - 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