View clinical trials related to Mobius Syndrome.
Filter by:Background: - Moebius syndrome limits the ability to make facial expressions like smile, frown or blink - and move the eyes laterally. It can also cause speech, swallowing or breathing difficulties and affect parts of the body, such as the limbs, jaw, muscles, or the heart. Some individuals with Moebius can have intellectual impairment or behavior problems. Researchers want to study the clinical features of individuals with Moebius or related disorders and explore the genetic and/or environmental causes of these conditions. Objective: - To learn more about the genetics and clinical characteristics of Moebius syndrome and other Congenital Facial Weakness disorders. Eligibility: - People ages 2 to 80 years with congenital facial weakness, isolated or combined with other congenital anomalies, and their family members. Design: - Participants with Moebius syndrome or other congenital facial weakness disorder will be evaluated at the NIH Clinical Research Center over 3 to 5 days and undergo the following procedures: - Medical and family history and physical examination, including body measurements and vital signs. - Blood or saliva will be collected for genetic tests and to evaluate liver, kidney, heart and hormonal functions. - Eye examination, including having a video taken of their eyes moving. - Hearing evaluation. - Speech and language assessment, including swallowing studies. - Dental exam. - Detailed neurological evaluation, including electromyogram/nerve conduction and blink reflex study. - Rehabilitation medicine evaluation, including muscle and tongue strength testing and assessment of balance. - Neurocognitive and behavioral testing and questionnaires to assess quality of life and copying mechanisms. - Imaging studies of their head, by magnetic resonance and diffusion tensor imaging -MRI/DTI. Participants will lie on a table that slides into a metal cylinder that takes images of internal body structures using magnets. Child participants may be sedated. - Some adults may have additional X-rays of their head or limbs, if there are abnormal findings. - Medical photographs of the face and affected body parts may be taken. - Other specialized tests or consultations, as indicated. - Participants can choose to have a skin biopsy taken. - A follow-up visit will be offered to participants for review of genetic test findings and possibly additional clinical tests, as indicated. Family members of the patients will have a medical and family history and physical examination. Blood or saliva will be obtained for genetic studies.
The Möbius syndrome constitutes a congenital disorder classically caused by genetic and environmental factors. The clinical manifestations include lesion of the facial and abducens nerves associated with limb malformations specially club foot. The speech-language manifestations include compromise of oral and deglutition, speech and language functions, secondary to cranial nerves lesions and mental retardation. The language compromise in this disorder is still not well known. In this way, the main objective of this study is to characterize the oral language in a population of fifteen subjects with Möbius syndrome with age ranging from two to thirteen years old, from both sexes, seen in one of the three main center for genetic diagnosis in the state of Ceará. The present work is a descriptive study of a cross-sectional design conducted from February to December/2002, using a clinical evaluation of language components including morphology, syntax, semantics and pragmatics. The investigators identified exclusive speech involvement in 20,0% of the subjects, language disturbance in 46,7%, speech and language disturbance in 13,3% and oral language involvement in 26,7%. The investigators conclude that the language disturbance in the Möbius syndrome presents with a variable compromise of all oral language components. The delay in linguistical development, incomprehensive speech and the deficit of constructions of sentences and narrations are constant.