aphonia/atrofia

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Predominant dystonia with marked cerebellar atrophy: a rare phenotype in familial dystonia.

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BACKGROUND Dystonia syndromes constitute a heterogeneous group of phenotypes that may be caused by different heredodegenerative, metabolic, or genetic diseases. OBJECTIVE To describe the characteristics of an unusual dystonia-plus phenotype associated with cerebellar atrophy. METHODS We selected

Aphonia, microstomia, deafness, retinal dystrophy, duplicated halluces and intellectual disability.

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We report on a sister and brother born to healthy, double first cousin Iranian parents with a seemingly unique combination of signs and symptoms consisting of intellectual disability, congenital absent voice (aphonia), hearing loss, optic atrophy, retinal dystrophy, mildly broad thumbs, and

The clinical syndrome of dystonia with anarthria/aphonia.

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OBJECTIVE In dystonia the formulation of a clinical syndrome is paramount to refine the list of etiologies. We here describe the rare association of dystonia with anarthria/aphonia, by examining a large cohort of patients, to provide a narrow field of underlying conditions and a practical

An unusual case of neuralgic amyotrophy presenting with bilateral phrenic nerve and vocal cord paresis.

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BACKGROUND Neuralgic amyotrophy (brachial plexus neuropathy, brachial plexus neuritis, or Parsonage-Turner syndrome) is an uncommon inflammatory condition typically characterized by acute and severe shoulder pain followed by paresis with muscle weakness and atrophy of the upper limb or shoulder

"Shaker" calf syndrome: a newly recognized inherited neurodegenerative disorder of horned Hereford calves.

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The clinical and pathological features of a newly recognized, inherited neurodegenerative disorder in horned Hereford calves are described. The disorder is expressed in newborns by tremulous shaking of the head, body and tail, difficulty in rising, a wobbly spastic gait, and aphonia. Transient

Botulinum toxin in the treatment of recalcitrant mutational dysphonia.

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Mutational falsetto is the failure of the normal drop in vocal pitch at puberty. Voice therapy almost always achieves an appropriate pitch; however, in cases of failure, surgical treatment has also been recommended. We report a case of a 47-year-old man with an above-average fundamental frequency

Late-onset Hallervorden-Spatz disease presenting as familial parkinsonism.

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We studied a 68-year-old man who died after 13 years of progressive dementia, rigidity, bradykinesia, mild tremor, stooped posture, slow and shuffling gait, dystonia, blepharospasm, apraxia of eyelid opening, anarthria, aphonia, and incontinence. At autopsy, he had generalized brain atrophy with

[Maternal-fetal transmission of human papillomavirus].

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OBJECTIVE Human papilloma virus (HPV) infection is one of the most frequently observed sexually-transmitted diseases (10-60% of the general population). In pregnant women, as well as accelerating the evolution of dysplasia to cervical cancer, the infection may be transmitted to the fetus during

Bilateral subthalamic nucleus stimulation in a parkinsonian patient with preoperative deficits in speech and cognition: persistent improvement in mobility but increased dependency: a case study.

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We report a patient with advanced Parkinson's disease, including severe and frequent off periods with freezing of gait, moderate dysphonia, and some cognitive impairment, who underwent bilateral subthalamic nucleus (STN) stimulation. The patient was followed for 1 year after surgery, showing

H-ABC syndrome and DYT4: Variable expressivity or pleiotropy of TUBB4 mutations?

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Recently, mutations in the TUBB4A gene have been found to underlie hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) syndrome, a rare neurodegenerative disorder of infancy and childhood. TUBB4A mutations also have been described as causative of DYT4 ("hereditary whispering

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