1/7. Becker muscular dystrophy combined with X-linked Charcot-Marie-Tooth neuropathy.A man was identified with two X-chromosomal neuromuscular disorders, X-linked charcot-marie-tooth disease (CMTX) and Becker muscular dystrophy (BMD). The neuropathy could be tracked in the family and was found to be caused by a mutation in the connexin32 gene on Xq13. 1. The muscular dystrophy was sporadic owing to a de novo deletion in the dystrophin gene located in band Xp21.2. Although these genetic alterations of the same X-chromosome are considered as physically independent, their combination resulted in a unique phenotype with severe wasting of proximal as well as distal muscles and rapid progression of both conditions.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
2/7. Acute deterioration of charcot-marie-tooth disease IA (CMT IA) following 2 mg of vincristine chemotherapy.BACKGROUND: Severe up to life-threatening neuropathy has been observed in patients with hereditary neuropathies receiving vincristine. CASE REPORT: A 52-year-old female painter suffering from high-grade non-Hodgkin's lymphoma (stage IVB) was treated with a total of 4 mg of vincristine during two courses of CHOP chemotherapy (cyclophosphamide, vincristine, adriamycin, prednisone). At onset of treatment no neurological problems were reported. There was good lymphoma response to chemotherapy. At the same time, however, the patient gradually developed dysphagia, dysarthria, muscular weakness of both lower and upper extremities, areflexia, paraesthesia of the fingertips and bilateral sensory impairment of feet and lower legs. These symptoms continually worsened over a period of seven weeks until she was unable to walk or to perform her work. Electrophysiological studies showed peripheral axonal and demyelinative sensorimotor neuropathy in correlation to histological findings. Molecular analysis revealed 17p11.2 duplication typical for charcot-marie-tooth disease IA. While continuing chemotherapy without the use of vincristine the patient's neurologic symptoms slowly recovered within six months. CONCLUSION: Prior to administration of vincristine family and patient history as well as physical examination should be performed carefully to look for underlying hereditary neuropathy. For those patients with a clinical history or symptoms suggestive for CMT nerve conduction velocity studies and on an individual base even molecular genetic analysis are necessary to prevent serious neurologic complications. worsened significantly resulting in dependency on a wheelchair and inability to perform her work as a painter. Finally she consulted a neurologist and was admitted to hospital for further diagnostic studies and continuation of treatment for her lymphoma in March 1998 with a provisional diagnosis of severe vincristine-induced neuropathy. Medical history at time of admission included hyperthyroidism, that was currently treated with propylthiouracil, a MALT lymphoma 1983, that was treated surgically only, and a meningoencephalitis in 1968. No further medication was taken. In addition she had a history of lyme disease since 1993 with positive IgM-titer until December 1997, when antibiotic therapy with doxycycline and ceftriaxone was administered successfully. family history obtained on admission revealed that her mother had non-specific neuropathic symptoms as well as a poorly defined foot deformities of the mother's father. The patient's brother does not show any neurologic impairment and is in good physical health.- - - - - - - - - - ranking = 2keywords = physical (Clic here for more details about this article) |
3/7. vincristine-induced neuropathy as the initial presentation of charcot-marie-tooth disease in acute lymphoblastic leukemia: a Pediatric Oncology Group study.PURPOSE: After profound peripheral neurotoxicity during induction chemotherapy for acute lymphoblastic leukemia (ALL) in the index patient with Charcot-Marie-Tooth hereditary neuropathy (CMT), study coordinators of the Pediatric Oncology Group (POG) front-line ALL protocols reviewed patient registrations to identify any other patients with possible CMT. The goal was to provide preliminary information about patients with undiagnosed CMT who develop ALL. patients AND methods: Five children with ALL who were enrolled in POG B-precursor or T-cell ALL protocols from 1994 to 1999 subsequently were determined to have CMT hereditary neuropathy. Their clinical presentations and treatment records were reviewed in detail. Records of all patients entered on POG 9201 (lesser-risk ALL) were reviewed to identify all cases of significant vincristine toxicity noted in the first 6 months of treatment. RESULTS: The five identified patients all had substantial peripheral neurotoxicity that required alteration in treatment and/or orthopedic/physical therapy evaluation and follow-up. The POG 9201 review identified 25 of 686 patients (3.6%) with significant peripheral neuropathy. Three of 25 were diagnosed with CMT; the others have had no testing reported. CONCLUSIONS: A family history of CMT or other peripheral neuropathy should be sought at the time of diagnosis of ALL. Testing for CMT should be considered in any child with substantial vincristine-induced peripheral neurotoxicity. Treatment of such patients must be individualized. Testing of all patients with significant peripheral neuropathy would be necessary to determine the percentage of such neuropathy explained by underlying CMT.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
4/7. Orthopaedic shoes improve gait in a Charcot-Marie-Tooth patient: a combined clinical and quantified case study.The aim of this study was to assess the extent to which orthopaedic shoes improved gait in a patient with Charcot-Marie-Tooth (CMT) disease and to show how the latest gait analysis tools available can help to assess and quantify the efficacy of this treatment. The case of a 55-year-old woman with CMT disease is described. She complained mainly of pain and frequent falling. The physical examination and the clinical gait analysis showed the presence of bilateral foot drop, high-stepping and varus. Treatment based on physical therapy and orthopaedic shoes was prescribed. In order to assess the clinical efficacy of the treatment, a complete physical examination was carried out after the patient had been wearing the orthopaedic shoes for one month. The quantified assessment was performed with a Gaitrite system, which can be used to record the spatio-temporal parameters of gait. It was concluded that orthopaedic shoes provide specialists in physical and rehabilitation medicine with an excellent means of treating gait disabilities in patients with CMT disease. With the made-to-measure orthopaedic shoes used, the falling and pain disappeared; the patient's walking speed increased and the foot support base decreased in size. Both the clinical and quantified data confirmed the subjective improvement perceived by the patient. The latest tools available for performing quantified gait analysis in clinical practice provide useful means of objectively assessing the success of treatment.- - - - - - - - - - ranking = 4keywords = physical (Clic here for more details about this article) |
5/7. charcot-marie-tooth disease: a case presenting with hyperreflexia.We report a 10-year-old girl with progressive weakness of lower extremities, feet deformity, and sensory impairment on both feet for 3 years. Absent ankle tendon reflex, exaggerated knee jerk and prolonged nerve conduction velocity were noted by physical and electrophysiological examination. Nerve and muscle biopsy showed demyelination and neurogenic changes respectively and supported the diagnosis of charcot-marie-tooth disease, type I. The point that the diagnosis of charcot-marie-tooth disease remains possible even in the absence of family history and the typical clinical picture is stressed. Complete electrophysiological study and tissue diagnosis are required for early diagnosis, early rehabilitation and reconstructive surgery.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
6/7. Bilateral abductor vocal cord paralysis in charcot-marie-tooth disease.This report descirbes the unusual association of bilateral abductor vocal cord paralysis (BAbVCP) and charcot-marie-tooth disease in a boy and his natural mother who have been followed for eight years. The boy initially presented with life-threatening respiratory distress at age ten years; BAbVCP was documented by direct laryngoscopy. Mirror laryngoscopy confirmed BAbVCP in the mother. Neurological diagnosis was made by history, physical examination, electromyography, and nerve conduction velocity studies. The BAbVCP may represent an additional genetic marker within the spectrum of heredodegenerative disorders. Of clinical importance is examination of voice and respiratory symptomatology of patients with heredodegenerative diseases and neurological work-up of patients with familial vocal cord paralysis. Further genetic and clinical studies of X cranial nerve involvement in heredodegenerative disorders are warranted.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
7/7. Total intravenous anaesthesia in charcot-marie-tooth disease. Case report.A Total Intravenous Anaesthesia (TIVA) protocol in a case of hereditary motor-sensory neuropathy charcot-marie-tooth disease in three consecutive orthopaedic surgical procedures is described. history, physical examination and sural nerve fascicular biopsy findings are reported. Problems related to the perioperative anaesthesiological management in peripheral neuropathies are discussed. propofol and fentanyl without muscle relaxants, proved to be a safe technique, fast at reaching the level of surgical anaesthesia required, manageable for maintenance and rapidly reversible.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |