Charcot-Marie-Tooth disease type 2F
Other Names for this Disease
- Autosomal dominant Charcot-Marie-Tooth disease type 2F
- Charcot Marie Tooth disease type 2F
- Charcot-Marie-Tooth disease, axonal, Type 2F
- Charcot-Marie-Tooth disease, neuronal, Type 2F
- Charcot-Marie-Tooth neuropathy, type 2F
Adults with CMT2 often have bilateral foot drop, symmetric atrophy of muscles below the knee (stork leg appearance) and absent tendon reflexes in the legs. Mild sensory deficits of position, vibration, pain or temperature may occur in the feet, or sensation may be intact. Pain (especially in the feet) is reported by about 20%-40% of affected individuals. Other features that may be associated with CMT2 in a few individuals include hearing impairment; vocal cord or phrenic nerve involvement (which may result in difficulty with speech or breathing); restless legs; and sleep apnea.
CMT2 is progressive over many years, but affected individuals often experience long periods without obvious progression. In some individuals, the condition may be so mild that it goes unrecognized. Affected individuals have a normal life span.
The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 2F. 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.
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.
- Thomas D. Bird. Charcot-Marie-Tooth Neuropathy Type 2. GeneReviews. July 5, 2012; http://www.ncbi.nlm.nih.gov/books/NBK1285/. Accessed 7/31/2012.