Question: What is (are) Partington syndrome ?
Answer: Partington syndrome is a rare neurological condition that is primarily characterized by mild to moderate intellectual disability and dystonia of the hands. Other signs and symptoms may include dysarthria, behavioral abnormalities, recurrent seizures and/or an unusual gait (style of walking). Partington syndrome usually occurs in males; when it occurs in females, the signs and symptoms are often less severe. It is caused by changes (mutations) in the ARX gene and is inherited in an X-linked recessive manner. Treatment is based on the signs and symptoms present in each person.
Source: GARD

Question: What are the symptoms of Partington syndrome ?
Answer: What are the signs and symptoms of Partington syndrome? The signs and symptoms of Partington syndrome vary but may include: Mild to moderate intellectual disability Behavioral issues Dystonia, especially affecting the movement of the hands Dysarthria Abnormal gait (style of walking) Recurrent seizures Partington syndrome usually occurs in males; when it occurs in females, the signs and symptoms are often less severe. The Human Phenotype Ontology provides the following list of signs and symptoms for Partington 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) Delayed speech and language development - Dysarthria - EEG abnormality - Flexion contracture - Focal dystonia - Intellectual disability - Limb dystonia - Lower limb spasticity - Seizures - Triangular face - X-linked recessive inheritance - 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

Question: What causes Partington syndrome ?
Answer: What causes Partington syndrome? Partington syndrome is caused by changes (mutations) in the ARX gene, which encodes a protein that regulates the activity of other genes. This protein is particularly important in the developing brain where it plays many roles (i.e. assisting with the movement and communication of neurons). Specific changes in the ARX gene impair the function of the protein, which may disrupt normal neuronal migration. This can lead to the many signs and symptoms associated with Partington syndrome.
Source: GARD

Question: Is Partington syndrome inherited ?
Answer: Is Partington syndrome inherited? Partington syndrome is inherited in an X-linked recessive manner. A condition is considered X-linked if the mutated gene that causes the condition is located on the X chromosome, one of the two sex chromosomes (the Y chromosome is the other sex chromosome). Women have two X chromosomes and men have an X and a Y chromosome. In X-linked recessive conditions, men develop the condition if they inherit one gene mutation (they have only one X chromosome). Females are generally only affected if they have two gene mutations (they have two X chromosomes), although some females may rarely have a mild form of the condition if they only inherit one mutation. A woman with an X-linked recessive condition will pass the mutation on to all of her sons and daughters. This means that all of her sons will have the condition and all of her daughters will be carriers. A man with an X-linked recessive condition will pass the mutation to all of his daughters (carriers) and none of his sons.
Source: GARD