Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0848771 (neurological disability)
 928 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Hereditary motor and sensory neuropathy (HMSN) is one of the most frequently inherited causes of peripheral neurological disability. To date, the classification has been based on clinical, histological and genetic grounds. Due to increased genetic knowledge at the molecular level in recent years, diagnosis of the different subtypes has been considerably improved and their relationship clarified. We describe three generations of a family with HMSN IA (Charcot-Marie-Tooth disease IA = CMT 1A) with a genetic defect mapped to chromosome 17 and show the importance of genetic testing. Even in benign and clinically non-manifested causes of the disease, an early and non-invasive diagnosis should be made by genetic testing to identify affected persons; thus, nerve biopsy can be abandoned. Operations of pes cavus, which are not indicated and are often complicated by delayed healing, may be avoided. Instead, patients should undergo early physiotherapy and be counselled about their professional careers and family planning.
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PMID:[Charcot-Marie-Tooth syndrome. Clinico-genetic correlation in an affected family]. 885 Dec 97

Obstructive sleep apnoea (OSA) has previously been described in a large family suffering from Charcot-Marie-Tooth disease type 1 (CMT1). In the present study, we used a case control design to establish whether this suggested link between OSA and CMT1 may also be found when studying genetically non-related patients. 12 patients with CMT1 and 24 control patients matched for age, sex and body mass index (BMI) were included in the study. Neurological disability was graded with a previously established 6 point score. All patients underwent overnight polysomnography. The mean apnoea-hypopnoea index (AHI) of patients with CMT1 was 10.5 (16.3) which was significantly higher than that of the control group (1.5 (1.3)). Five out of 12 patients with CMT1 had an AHI > or =10/h compared with 1 of 24 control patients (p<0.01). In patients with CMT1, a significant correlation between AHI and neurological disability was found (Spearman r = 0.62; p = 0.031) while BMI and age were not related to AHI. CMT1, in particular CMT1A, predisposes with disease progression to the development of OSA. Pathophysiologically, one may assume that CMT1 related pharyngeal neuropathy increases the collapsibility of the upper airway which in turn leads to recurring obstructive respiratory events.
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PMID:Increased prevalence of obstructive sleep apnoea in patients with Charcot-Marie-Tooth disease: a case control study. 1855 57