Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0007758 (cerebellar ataxia)
 3,609 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 43-year-old man was admitted to our hospital due to unstable walking, head tilting to the left and difficulty in extending his arm. He was quite healthy until the age of 20 years, when these symptoms appeared and progressed slowly afterward. Due to his unstable walking, he started to use a wheelchair when he was 39 years old. He had no family history of similar disease. On admission, neurological examination revealed spasmodic torticollis, ataxic speech and marked limb and truncal ataxia. Myoclonic jerky flexion of the forearm was induced when he raised and extended his forearm. He also showed mild hyperreflexia in the lower limbs without pathological reflexes. He had weakness and atrophy of the left supraspinatus, infraspinatus, deltoid and biceps brachii muscles and mild superficial sensory impairment in the left axillary nerve territory due to cervical spondylotic radiculopathy of the left C5 root. MRI of the brain demonstrated severe bilateral atrophy of the cerebellar hemispheres and vermis but minimal atrophy of the cerebrum and brainstem. Because surface electromyography revealed continuous discharge with phasic components in the biceps and wrist flexor muscles on extending the upper limbs, the jerky flexion movement of the forearm was considered to be primarily dystonia. Although no giant SEP was observed, a C-response was detected in the long-loop reflex in response to right median nerve stimulation. Nuclear examinations showed diffuse hypoperfusion and decreased glucose metabolism in the cerebellum. Based on these findings, we hypothesized that cerebellar dysfunction may have induced severe dystonic movement resembling myoclonus. We would like to name this complicated involuntary movement an "arm thrust". This is the first case to be reported of sporadic, chronic, progressive cerebellar ataxia accompanied by severe dystonic movement, especially on stretching the forearms, that mimics myoclonic movement.
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PMID:[A case of cerebellar ataxia showing severe dystonia masquerading as myoclonic jerky movements on arm extension]. 1235 58

Superficial siderosis is a rare condition caused by deposition of hemosiderin in the central nervous system. In recent years, it has been used to identify dural defects connecting the intrathecal space with the intraspinal fluid-filled collection seen in patients with superficial siderosis. However rare reports describe the association of low-lying cord in superficial siderosis patients. We present a patient with progressive cerebellar ataxia, sensorineural hearing loss, low-pressure headache, pyramidal signs and additional cervical and lumbar radiculopathy with neurogenic bladder which might be related to cervical disc herniation and tethered cord. CSF and Magnetic resonance imaging (MRI) studies confirmed the diagnosis of superficial siderosis. Dural defect is indirectly suspected by existence of fluid-filled collection ventral to the spinal cord and low-pressure headache in our patient. Underlying causes of low-pressure headache and possible dural defect should be searched for as an associated and possibly treatable condition in superficial siderosis and provide further insights into the mechanism of bleeding in our patient who have an intraspinal fluid-filled collection.
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PMID:A patient with superficial siderosis, intraspinal cyst, low-pressure headache and low-lying cord. 2236 82