9 documents found, page 1 of 1

Definition and diagnosis of small fiber neuropathy: consensus from the Peripher...

ABSTRACT The aim of this study was to describe the results of a Brazilian Consensus on Small Fiber Neuropathy (SFN). Fifteen neurologists (members of the Brazilian Academy of Neurology) reviewed a preliminary draft. Eleven panelists got together in the city of Fortaleza to discuss and finish the text for the manuscript submission. Small fiber neuropathy can be defined as a subtype of neuropathy characterized by...

Brazilian consensus for diagnosis, management and treatment of transthyretin fa...

ABSTRACT Transthyretin familial amyloid polyneuropathy is an autosomal dominant inherited sensorimotor and autonomic polyneuropathy, which if untreated, leads to death in approximately 10 years. In Brazil, liver transplant and tafamidis are the only disease-modifying treatments available. This review consists of a consensus for the diagnosis, management and treatment for transthyretin familial amyloid polyneuro...

Quality of life in patients with Charcot-Marie-Tooth disease type 1A

We assessed the functional impairment in Charcot-Marie-Tooth resulting from 17p11.2-p12 duplication (CMT1A) patients using the Short-Form Health Survey (SF-36), which is a quality of life questionnaire. Twenty-five patients of both genders aged ≥10 years with a positive molecular diagnosis of CMT1A were selected. Age- and gender-matched Control Group (without family history of neuropathy), and the sociodemograp...

Primary neural leprosy: systematic review

The authors proposed a systematic review on the current concepts of primary neural leprosy by consulting the following online databases: MEDLINE, Lilacs/SciELO, and Embase. Selected studies were classified based on the degree of recommendation and levels of scientific evidence according to the “Oxford Centre for Evidence-based Medicine”. The following aspects were reviewed: cutaneous clinical and laboratorial i...

X-linked adrenoleukodystrophy in heterozygous female patients: women are not ju...

X-linked adrenoleukodystrophy (X-ALD) is a recessive X-linked disorder associated with marked phenotypic variability. Female carriers are commonly thought to be normal or only mildly affected, but their disease still needs to be better described and systematized. OBJECTIVES: To review and systematize the clinical features of heterozygous women followed in a Neurogenetics Clinic. METHODS: We reviewed the clinica...

Spastic paraparesis as the onset manifestation of spinocerebellar ataxia type 7

Swallowing dysfunction in hereditary neuropathy with liability to pressure palsies

Near nerve potencial of sural nerve in leprosy

Leprosy neuropathy is characterized by initial involvement of the small nerve fibers, later followed by involvement of the large fibers, when routine nerve conduction studies become abnormal. To increase the diagnostic yield and precocity of these studies, we applied the near nerve technique to the sural nerve of 8 leprosy patients. Contrary to our expectations, the main component of the sural nerve sensory act...

Internal consistency of a Brazilian version of the unified Huntington's disease...

We evaluated the reliability of a translated Brazilian version of the Unified Huntington's Disease Rating Scale (UHDRS) to establish the reproducibility of the scale in a population that differs substantially from that on which the scale was originally validated. After a training period with the video and guidelines requested from the Huntington Study Group, we applied the UHDRS, except for the cognitive tests,...