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WUSTL - Hereditary neuropathies of the independent and sensory nervous system. INDEPENDENT HEREDITARY NEUROPATHIES SENSORIE and (HSAN) neuropatiche Syndromes hereditary independent sensorie and Atrophy turns of coroide and hairnet with iperornitinemia Ataxia of posterior column + pigmentosa Retinite hereditary Neuropathies with ulcere mutilanti hereditary Sensorio motoria Neuropathy with ulcere mutilanti Sensorio motoria Ereditaria-Neuropatia with ulcere mutilanti spastic hereditary sensoria Neuropathy with paraparesi Polineuropatia with miniissues, disgenesi gonada 46, XY and mental delay. Genetics: Punctiform mutation omozigote allinizio Cells of Sertoli of the testicoli in development Development of the girdle of the peripheral nerves Other members of the family hedgehog Anatomy: Premature genitalia feminile. Testicoli to a side, gonadi streaked to the other Cute: Black nails. Cyanosis and edema to the exposure to the cold Sensorio NCV: Thin SNAP or absent. Speed of Numerous lowered conduction fasciculation in the surali nerves (~50) with gonadiale formation of miniissues and disgenesi pure 46XY Ataxia of pigmentosa the posterior column and retinite (AXPC1) Insorgence: Infantile premature. Visual loss Pathology: Ganglia of the spinal marrow and posterior column hereditary sensoria Neuropathy with gastroesofageo Riflusso and Cough of the modality with involvement of large fibers nervous Conduction: Sensorio, assonale loss hereditary sensoria Neuropathy with deafness and total delay Delay in the development: Motorio. Language Delay in development (100%): Motorio. Language Other: Optical atrophy. Tubular acidosis renal Biopsy of the surali nerves: Assonale loss connected sensoria Neuropathy to chromosome X with deafness (AUNX1). the cellular function of the eyelash cocleari Atrophy turns of the coroide and hairnet with iperornitinemia Muscles: Atrophy of muscular fibers Nerves: Assonale sensoria neuropathy, to the elettrofisiologia sensoria and independent hereditary Neuropathy (HSAN) with anosmia. Anosmia: All 3 members of the family cutaneous Biopsy: Glands esocrine - degeneration to vacuolare and scholars expand animal Model to you of the HSN: feet cripples containing Chaperonina complex T of polypeptide 1, Subunità 4 (CCT4) of peptides as soon as traslati: Tubulina, actina, trasducina? and other citosoliche proteins multiple Turns of issolution and rilegame of partially Serious the intermediate shape loss of ganglia and assoni sensors Disease of the extreme pain parossimale Normal school: Tact. Temperature (warm and cold). Propriocezione. Disease of the parossimale extreme pain Mutations: Missenso. Present in the 2/3 of the families with PEPD changed Protein: Altered inattivazione with Localizations: Rectal, Genital, Face (Ocular, to mandibolare) non-epilettico tonics. Asistole cardiac Dysfunction of the independent nervous system of the painful feeling with normal schools anatoma and function of the nerves painful to the injurious stimulus: Reduced or absent Temperature: Perception of warmth and reduced cold Taste: Normal school except reduced Normal perception: Light touch. Propriocezione. Vibrations. Independent of the perception of the pain with naltrexone of the precourse the sensors of PNS and CNS in the crawler track, it isolates, or somatosensorie cortical regions the affective-motivazionalee member in the perception of the pain Lesion of skillful the postcentral turn to discriminate the painful stimuli appropriately Maintained the ability to react appropriately to the pain.