ABSTRACT
ABSTRACT The hereditary neuropathy with liability to pressure palsies (HNPP) is an autossomal dominant disorder manifesting recurrent mononeuropathies. Objective Evaluate its clinical and nerve conduction studies (NCS) characteristics, searching for diagnostic particularities. Method We reviewed the neurological manifestations of 39 and the NCS of 33 patients. Results Family history was absent in 16/39 (41%). The onset complaints were weakness in 24, pain in 6, sensory deficit in 5 and paresthesias in 4. Pain was seen in 3 other patients. The following neuropathy patterns were found: multiple mononeuropathy (26), mononeuropathy (7), chronic sensorimotor polyneuropathy (4), chronic sensory polyneuropathy (1) and unilateral brachial plexopathy (1). NCS showed a sensorimotor neuropathy with focal conduction slowing in 31, two had mononeuropathy and another brachial plexopathy. Conclusion HNPP presentation is variable and may include pain. The most frequent pattern is of an asymmetrical sensory and motor neuropathy with focal slowing at specific topographies on NCS.
RESUMO A neuropatia hereditária com susceptibilidade à pressão (HNPP) é uma doença autossômica dominante que manifesta mononeuropatias recorrentes. Objetivo Avaliar as características clínicas e os estudos da condução nervosa (ECN) procurando particularidades diagnósticas. Método Revisamos as características clínicas de 39 e os ECN de 33 pacientes. Resultados História familiar ausente em 16/39 (41%). As manifestações iniciais foram: fraqueza em 24, dor em 6, déficit sensitivo em 5 e parestesias em 4. Dor foi referida por outros 3 pacientes. Os seguintes padrões de neuropatia foram observados: mononeuropatia múltipla (26), mononeuropatia (6), polineuropatia sensitivo-motora (4), polineuropatia sensitiva (1) e plexopatia braquial unilateral (1). Os ECN mostraram uma neuropatia sensitivo-motora com redução focal da velocidade de condução em 31, dois tinham mononeuropatia e outro plexopatia braquial. Conclusão A apresentação da HNPP é variável e pode incluir dor. O padrão mais frequente é o de uma neuropatia sensitivo-motora assimétrica com alentecimentos focais da condução em topografias específicas nos ECN.
Subject(s)
Humans , Male , Female , Child, Preschool , Child , Adolescent , Adult , Middle Aged , Aged , Young Adult , Chromosomes, Human, Pair 17/genetics , Gene Deletion , Peripheral Nervous System Diseases/physiopathology , Neural Conduction/physiology , Paralysis , Paresthesia/etiology , Pressure , Sensation Disorders/etiology , Peripheral Nervous System Diseases/genetics , Neuralgia/etiologyABSTRACT
A doença de Charcot-Marie-Tooth é a neuropatia periférica hereditária mais comum em seres humanos, apresentando a incidência de 1:2500 pessoas...
Charcot-Marie-Tooth disease is the most common hereditary peripheral neuropathy in humans, presenting incidence of 1:2500 people...
Subject(s)
Peripheral Nervous System Diseases/genetics , Otorhinolaryngologic Diseases/etiology , Peripheral Nervous System Diseases/diagnosisABSTRACT
Mutations and altered gene dosage of the peripheral myelin protein (PMP22) gene in chromosome 17p11.2-12 are the main causes for hereditary neuropathies, accounting for approximately 70% of all cases. Patients with duplication of the PMP22 develop Charcot-Marie-Tooth disease type 1A (CMT1A) and deletion of one PMP22 allele leads to hereditary neuropathy with liability to pressure palsy (HNPP). Twenty patients with CMT1A, 17 patients with HNPP, and 18 normal family members and 28 normal controls were studied by real-time quantitative PCR using SYBR Green I on the ABI 7700 Sequence Detection System. The copy number of the PMP22 gene was determined by the comparative threshold cycle method and the albumin was used as a reference gene. The PMP22 duplication ratio ranged from 1.45 to 2.06 and the PMP22 deletion ratio ranged from 0.42 to 0.64. The PMP22 ratio in normal controls, including normal family members, ranged from 0.85 to 1.26. No overlap was found between patients with CMT1A or patients with HNPP and normal controls. This method is fast, highly sensitive, specific, and reproducible in detecting PMP22 duplication and deletion in CMT1A and HNPP patients, respectively.
Subject(s)
Female , Humans , Male , Charcot-Marie-Tooth Disease/diagnosis , Chromosomes, Human, Pair 17 , Family Health , Fluorescent Dyes/pharmacology , Gene Deletion , Gene Duplication , Hereditary Sensory and Motor Neuropathy/genetics , Membrane Proteins/biosynthesis , Organic Chemicals/pharmacology , Paralysis/genetics , Peripheral Nervous System Diseases/genetics , Reverse Transcriptase Polymerase Chain ReactionABSTRACT
Enfatizando que a sindrome da cintura dos membros pode se apresentar em varias afeccoes miopaticas ou do sistema nervoso periferico, os AA relatam como fazer o diagnostico diferencial dessas afeccoes, com auxilio da anamnese, do exame neurologico, da eletroneuromiografia, da biopsia muscular inclusive com histoquimica, com exames bioquimicos do sangue (enzimas musculares, prova de atividade inflamatoria, dosagens hormonais, lactacidemia e Kalemia) da imunohistoquimica e finalmente dos exames genetico atraves da biologia molecular e ou da pesquisa de produtos genicos como a distrofina
Subject(s)
Humans , Peripheral Nervous System Diseases/diagnosis , Muscular Dystrophies/diagnosis , Motor Neurons/pathology , Peripheral Nervous System Diseases/genetics , Muscular Dystrophies/genetics , Diagnosis, DifferentialABSTRACT
Este estudio fue diseñado buscando un método sencillo que permitiera evaluar el compromiso denervatorio o muscular primario en la infección experimental con T. cruzi. Para ello se empleó la exploración electromiográfica convencional de los músculos isquiotibiales de una de las patas en diferentes cepas de ratones infectados con 3 cepas de T. cruzi. Se estudiaron las siguientes asociaciones entre parásitos y huéspedes: Tulahuén (Tul) y C3H/HeN, C57Bl, Balb/c ó Swiss; CA-I y C3H/HeN, Rockland, NIH; RA y C3H/HeN, Rockland. Los ratones se infectaron con tripomastigotes sanguíneos de t. cruzi administrados por vía intraperitoneal. En el electromiograma fueron estudiadas la amplitud, duración y número de fases de los potenciales de undad motora aislados. Se observó que la cepa Tul inducía alteraciones de tipo denervatório en ratones C3H/HeN y C57BI y que igual acontecía con la cepa RA en ratones C3H/HeN. Modificaciones sugestivas de daño muscular primario se vieron en la asociación parásito CA-I y huéspede C3H/HeN y entre CA-I y HIH. La metodología empleada demostró ser de utilidad práctica para la rápida detección del tipo de compromiso de la unidad motora en las infecciones murinas experimentales con T. cruzi
Subject(s)
Animals , Male , Mice , Mice, Inbred Strains/parasitology , Chagas Disease/parasitology , Peripheral Nervous System Diseases/parasitology , Trypanosoma cruzi/pathogenicity , Mice, Inbred Strains/genetics , Denervation , Chagas Disease/genetics , Electromyography , Species Specificity , Injections, Intraperitoneal , Muscles/innervation , Muscles/parasitology , Peripheral Nervous System Diseases/genetics , Trypanosoma cruzi/classification , Trypanosoma cruzi/growth & development , VirulenceABSTRACT
Existem inúmeras doenças neuromusculares que acometem seres humanos. A grande maioria delas é insuficientemente conhecida quanto a mecanismos fisiopatológicos e tratamentos adequados. A limitaçäo na manipulaçäo experimental em <