Titre : | Charcot-Marie-Tooth Neuropathy Type 4J : Synonyms: Charcot-Marie-Tooth Disease Type 4J, CMT4J |
Revue : | GeneReviews® [Internet] |
Auteurs : | Li J |
Type de document : | Article |
Année de publication : | 14/11/2013 |
Langues: | Anglais |
Mots-clés : | article de type review ; CMT4J ; conseil génétique ; corrélation génotype-phénotype ; description de la maladie ; diagnostic ; diagnostic différentiel ; diagnostic prénatal ; examen complémentaire ; médecine physique et de réadaptation ; pharmacothérapie ; prévalence ; prise en charge orthopédique ; prise en charge thérapeutique ; tableau clinique |
Résumé : |
Initial Posting: November 14, 2013.
NOTE: THIS PUBLICATION IS ARCHIVED. IT IS FOR HISTORICAL REFERENCE ONLY, AND THE INFORMATION MAY BE OUT OF DATE. Clinical characteristics. Charcot-Marie-Tooth neuropathy type 4J (CMT4J) is a peripheral neuropathy characterized by childhood onset (manifest as clumsy gait) with accelerated limb weakness and muscle atrophy during the teen or adult years that is typically asymmetric and can involve both distal and proximal limb muscles. Although sensory symptoms are minimal, examination may reveal decreased response to touch, pin prick, or vibration distally. Bulbar and cranial nerve functions are often spared; intellect is normal. Diagnosis/testing. The diagnosis is established by neurologic findings, nerve conduction studies (NCS) that are decreased but not uniformly so and can vary within the same limb, electromyogram (EMG) that often shows diffuse denervation, and detection of biallelic pathogenic variants in FIG4 (one of which is a missense variant and the other a truncating variant). Management. Treatment of manifestations: Affected individuals are often managed by a multidisciplinary team that includes a neurologist, physiatrist, orthopedic surgeon, and physical and occupational therapists. Treatment is symptomatic and may include special shoes, ankle/foot orthoses to correct foot drop and aid walking, orthopedic surgery to correct severe pes cavus deformity, forearm crutches or canes for gait stability, wheelchair as needed, exercise within the individual's capability to remain physically active, and BIPAP for those with respiratory muscle weakness. Surveillance: Annual follow up with a neurologist for overall evaluation of neurologic deficits, with occupational therapy and physical therapy to assess fine motor and gross motor function, and with a pulmonologist for evaluation of respiratory function. Agents/circumstances to avoid: Medications that are toxic or potentially toxic to persons with CMT, including those who are asymptomatic; Genetic counseling. CMT4J is inherited in an autosomal recessive manner. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Carrier testing for at-risk family members and prenatal testing for pregnancies at increased risk are possible if the pathogenic variants in the family have been identified. |
Lien associé : | Texte complet disponible en accès libre sur Bookshelf GeneReviews® |
Pubmed / DOI : | Pubmed : 24228289 |