Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0011168 (dysphagia)
 15,644 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Two Japanese male siblings, aged 68 and 59 years, affected by late-onset progressive ataxia distinguished by extensive sensory and mild autonomic disturbances are described. They had global thermoanalgesia, positive Romberg signs, sensorineural deafness, canal paresis and ageusia. Their autonomic disturbances consisted of absence of overflow tears with usual stimuli, dysphagia, blood pressure and vasomotor instability, diarrhoea/constipation, and urinary frequency. Sensory nerve action potentials were completely absent, whereas motor conduction velocity was slightly reduced only in the lower extremities. Sural nerve biopsy on the younger brother demonstrated a marked loss of myelinated fibres and a reduction in the number of unmyelinated axons. Tongue histology revealed absence of fungiform papillae and taste buds. Autonomic function tests showed widespread but mild sympathetic and parasympathetic failures. Neuro-imaging studies revealed atrophy of the spinal cord, cerebellum, brainstem and corpus callosum, and enlargement of the lateral, third and fourth ventricles. These siblings represent a previously unrecognized variant of late-onset hereditary spinocerebellar degeneration with global thermoanalgesia and absence of fungiform papillae on the tongue.
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PMID:Late-onset hereditary ataxia with global thermoanalgesia and absence of fungiform papillae on the tongue in a Japanese family. 867 78

Respiratory and sleep disturbances may be important causes of morbidity in Steele-Richardson-Olszewski syndrome but the frequency and character of nocturnal abnormalities remains uncertain. A prospective study of 11 patients with Steele-Richardson-Olszewski syndrome and age-matched control subjects was undertaken using clinical assessments, a structured sleep questionnaire, spirometry, static maximum inspiratory and expiratory pressures and nocturnal oximetry. The mean age of the Steele-Richardson-Olszewski syndrome patients was 63.2 (52-70) years and mean disease duration was 4.0 (2-6) years. There was moderate to severe motor disability in nine and mild to moderate dementia in eight. In the patients with Steele-Richardson-Olszewski syndrome the following abnormalities contributed to sleep disturbances significantly more frequently than in normal controls: depression, dysphagia, frequent nocturnal awakenings (usually associated with urinary frequency), immobility in bed, difficulty with transfers, impaired dressing and feeding. There was profound impairment of voluntary respiratory control whilst automatic and limbic control were well maintained. Nocturnal respiratory abnormalities were not present even in the most severely disabled. In Steele-Richardson-Olszewski syndrome sleep abnormalities are common; they relate to the cognitive, pseudobulbar and extrapyramidal disturbances and may therefore be amenable to symptomatic control.
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PMID:Nocturnal and respiratory disturbances in Steele-Richardson-Olszewski syndrome (progressive supranuclear palsy). 876 3

Machado-Joseph disease (MJD) has been described in Africans, but no cases have been reported from Nigeria. Current MJD global distribution results from both the ancestral populations-of-origin and the founder effects of mutations, some as a consequence of the Portuguese sea travels in the 15th to 16th century. Two main ancestral haplotypes have been identified: the Machado lineage, which is more recent, predominant in families of Portuguese extraction, and the Joseph lineage, which is much older and worldwide spread, postulated to have an Asian origin. We report a Nigerian family with MJD from Calabar, once settled by Portuguese slave traders, and assessed its mutational origin. The proband was a 33-year-old man with progressive unsteady gait, weakness of all limbs, dysphagia, dysarthria, urinary frequency and diaphoresis. He had end-of-gaze nystagmus, spastic quadriparesis and atrophic small muscles of the hand. He showed fibrillation potentials on EMG, and nerve conduction studies suggested a central axonopathy without demyelination. This family bears the Joseph haplotype, which has a founder effect in the island of Flores, in the Azores (and their descendants in North-America), but is also the most common in non-Portuguese populations worldwide, with an estimated mutation age of around 7000 years.
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PMID:Machado-Joseph disease in a Nigerian family: mutational origin and review of the literature. 2478 59

A 48-year-old man residing in a mental health department inpatient program with a history of schizoaffective disorder presented to the emergency department with a chief complaint of fever and intense abdominal pain for one day. The patient stated he initially fell in the shower and afterwards experienced back pain. He was transferred to an acute care unit within the facility for further evaluation. The facility physician noted that the patient had a mild temperature elevation and abdominal rigidity on exam. At that time, he was given two doses of benztropine intramuscularly, and transferred to our hospital for further evaluation. The patient exhibited fever, diffuse abdominal pain and a nonproductive cough, but denied chills, dysuria, urinary frequency, hematuria, weakness, diarrhea, melena or hematochezia. He did have a one-week history of constipation for which he was given sodium phosphate enemas, magnesium citrate and docusate sodium, eventually resulting in a bowel movement. He also complained of new onset dysphagia. There were no recent changes to his medications, which included clonazepam, divalproex sodium extended release, olanzapine and risperidone. He denied use of tobacco, alcohol or illicit drugs.
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PMID:Clinical Case of the Month: A 48-Year-Old Man With Fever and Abdominal Pain of One Day Duration. 2715 3