What are the symptoms of Troyer syndrome ?
What are the signs and symptoms of Troyer syndrome? The signs and symptoms of Troyer syndrome can vary, and some people are more severely affected than others. Symptoms typically begin in early childhood. Most affected children have delays in walking and talking, followed by slow deterioration in both manner of walking (gait) and speech. Affected people have progressive muscle weakness and stiffness (spasticity) in the legs; muscle wasting in the hands and feet; paraplegia; leg contractures; learning disorders; and short stature. Mood swings and mood disorders, causing inappropriate euphoria and/or crying, are common. Other features can include drooling; exaggerated reflexes (hyperreflexia) in the legs; uncontrollable movements of the arms and legs (choreoathetosis); skeletal abnormalities; and a bending outward (valgus) of the knees. There is generally a slow, progressive decline in muscle and nerve function, and symptoms worsen over time. Most people need a wheelchair by their 50s or 60s. Affected people typically have a normal life expectancy. The Human Phenotype Ontology provides the following list of signs and symptoms for Troyer 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) Ankle clonus - Autosomal recessive inheritance - Babinski sign - Brachydactyly syndrome - Camptodactyly - Cerebellar atrophy - Childhood onset - Clinodactyly - Difficulty walking - Distal amyotrophy - Drooling - Dysarthria - Dysmetria - Emotional lability - Hammertoe - Hyperextensible hand joints - Hyperplasia of midface - Hyperreflexia - Hypertelorism - Intellectual disability, mild - Knee clonus - Kyphoscoliosis - Lower limb muscle weakness - Motor delay - Pes cavus - Short foot - Short stature - Spastic gait - Spastic paraparesis - Spastic paraplegia - Upper limb spasticity - 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.