Tremor in 48,XXYY syndrome

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Tremor and Klinefelter’s Syndrome

BACKGROUND Klinefelter's syndrome (KS) has been associated with tremor, but reports on tremor phenomenology and treatment are limited. CASE REPORTS Patient 1 is a 17-year-old male with a dystonic tremor treated with deep brain stimulation (DBS). Patient 2 is a 57-year-old male with a predominant left hand resting tremor and dystonic features. DISCUSSION Our cases suggest that the tremor in ...

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Tremor, FXTAS and Klinefelter Syndrome

Patients with Klinefelter syndrome have a higher prevalence of postural and action tremor that the general population, but are typically diagnosed before developing tremor. We here report a 68 year old patient diagnosed with Klinefelter syndrome while being tested for FXTAS and review the available literature on this subject.

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Cranial neuroimaging in infantile tremor syndrome (ITS).

Clinical, hematological and cranial neuroimaging findings of eight cases of infantile tremor syndrome are reported. All had coarse tremors, anemia, hyperpigmentation and delayed or regression of developmental milestones. Five patients had microcytic, hypochromic anemia, three had dimorphic anemia. CT scans of two cases and MRI scans of three cases showed cerebral atrophy. One of these two CT sc...

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48XXYY Syndrome in an Adult with Type 2 Diabetes Mellitus, Unilateral Renal Aplasia, and Pigmentary Retinitis

A 45-year-old male was referred for diabetes mellitus. Clinical examination found a family history of multiple precocious deaths, strong consanguinity, personal history of seizures during childhood, small testicles, small penis, sparse body hair, long arms and legs, dysmorphic features, mental retardation, dysarthria, tremor, and mild gait ataxia. Investigations found pigmentary retinitis, meta...

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Hereditary essential tremor and restless legs syndrome.

Sir Essential tremor is usually considered to be a monosymptomatic disorder with variable clinical expression, about half of all cases demonstrating an autosomal dominant pattern of inheritance.' Possible associations with other movement disorders have been described, including Parkinson's disease.2 We report a patient with hereditary essential tremor and the restless legs syndrome. A 71-year-o...

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ژورنال

عنوان ژورنال: Movement Disorders

سال: 2009

ISSN: 0885-3185

DOI: 10.1002/mds.22700