Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0231530 (twitching)
 2,043 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Autopsy cases of two brothers with bulbo-spinal muscular atrophy associated with gynecomastia, testicular atrophy and sensory neuropathy are reported. The disease started with finger tremor, proximal muscle weakness and facial muscle twitching at the second and fourth decades, accompanied by bulbar signs and glove-stocking type sensory disturbance. Systemic neurogenic patterns and diminished sensory nerve action potential amplitudes were recorded by electrophysiological studies. A marked loss of myelinated fibers was noticed upon sural nerve biopsy. Gonadal hormone values were normal, except for elevated urinary estrogen. Postmortem examinations revealed a remarkable degeneration of the facial and hypoglossal nuclei, and the spinal cord motoneurons. The skeletal muscles and the tongue showed neurogenic muscular atrophy with fatty replacement. Testicular atrophy was prominent showing hyalinized seminiferous tubuli with nodular and diffuse Leydig cell hyperplasia, containing estrogen immunoreactive substance. These clinical and histological features seemed to be highly compatible with those of Kennedy-Alter-Sung type bulbo-spinal muscular atrophy. The involvement of sensory peripheral nerves, however, was a distinct feature of this family.
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PMID:Familial bulbo-spinal muscular atrophy associated with testicular atrophy and sensory neuropathy (Kennedy-Alter-Sung syndrome). Autopsy case report of two brothers. 321 30

A 63-year-old man was admitted to our clinic on August 14, 1980 with the chief compliant of left-sided intermittent facial pain. He had been suffering from twitching of the left facial muscles since 1972. During two years before admission, severe pain of the left face, starting in the left upper jaw and radiating to the left periorbital region, occurred intermittently. The pain aggravated by eating, talking and face-washing, gradually worsened and he became unable to take meals. On admission, he was alert. No sensory disturbance was seen. Muscle twitching was seen in the left orbicularis oculi, orbicularis oris and sometimes in the platysma. Mild facial palsy was recognized on the left side and other cranial nerves were intact. Computed tomogram with contrast enhancement revealed shift of the basilar artery to the left side. Markedly enlarged and tortuous vertebrobasilar system kinking at the left cerebello-pontine angle, was seen on the left vertebral angiogram. This tortuous vertebrobasilar system was presumed to be the cause of the trigeminal neuralgia and hemifacial spasm. The neuralgia disappeared after a controlled thermocoagulation of the left Gesserian ganglion, and the frequency of hemifacial spasm was reduced too. He was discharged with mild hemifacial spasm. The combination of trigeminal neuralgia and hemifacial spasm caused by direct compression of tortuous vertebro-basilar system on the nerve roots is rare. A case was reported and the literature were reviewed.
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PMID:[Trigeminal neuralgia and hemifacial spasm caused by the compression of tortuous vertebro-basilar system--a case report (author's transl)]. 729 Mar 19

We report a unique case of KAS syndrome presenting as hypersexuality and elevated serum creatine kinase (CK). None of the other members of the patient's family had KAS. The patient had engaged in sexual behavior 4 approximately 5 times a week since his marriage. He did not have gynecomastia or hepatomegaly. Neurological examination revealed facial twitching and tongue atrophy and fasciculations. Mild to moderate muscular atrophy and weakness were evident in the proximal portion of the upper and the distal portion of the lower extremities. Deep tendon reflexes were absent, as were sensory disturbance and sphincter dysfunction. Laboratory data showed mild elevation of transaminase (GOT 113 U/L, GPT 69 U/L) and extreme elevation of CK (4,600 U/L) in serum. Electromyography and muscle biopsy from the left biceps showed chronic neurogenic atrophy. Genetic analysis showed increased expansion of a CAG repeat (44 repeats) in exon 1 of the androgen receptor gene. We diagnosed KAS syndrome based on the genetic analysis. This case is important in illustrating the clinical varieties of KAS syndrome, as well as the importance of genetic analysis in KAS syndrome cases presenting with atypical manifestations and without a family history.
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PMID:[A case of Kennedy-Alter-Sung (KAS) syndrome presenting as hypersexuality and elevated serum CK: usefulness of genetic analysis]. 874 52