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Parkinsonism Relat Disord. 2016 Mar;24:20-7. doi: 10.1016/j.parkreldis.2016.01.022. Epub 2016 Jan 28.

The clinical syndrome of dystonia with anarthria/aphonia.

Author information

1
Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, University College London, London, UK; Department of Neurology, University Medical Center Hamburg-Eppendorf (UKE), Hamburg, Germany.
2
Department of Neurology, Great Ormond Street Hospital, London, UK.
3
Second Department of Neurology, University of Athens, Athens, Greece; Neurology Clinic, Philipps University, Marburg, Germany.
4
Institute of Neurology, CCS, School of Medicine, University of Belgrade, Belgrade, Serbia.
5
Department of Molecular Neuroscience, Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK.
6
Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, University College London, London, UK.
7
Department of Neurology, Christian-Albrechts-University of Kiel, Kiel, Germany.
8
Department of Neurology, Great Ormond Street Hospital, London, UK; Molecular Neurosciences, Developmental Neurosciences, UCL-Institute of Child Health, London, UK.
9
Sobell Department of Motor Neuroscience and Movement Disorders, UCL Institute of Neurology, University College London, London, UK. Electronic address: K.bhatia@ucl.ac.uk.

Abstract

OBJECTIVES:

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 algorithmic approach to reach diagnosis.

METHODS:

We retrospectively reviewed cases, which were evaluated between 2005 and 2014, to identify those with dystonia combined with marked anarthria and/or aphonia. We reviewed demographic information, clinical characteristics, as well as clinico-genetic investigations. We evaluated video material where available.

RESULTS:

From 860 cases with dystonia as the predominant motor feature, we identified 32 cases (3.7%) with anarthria/aphonia. Age at neurological symptom onset was variable, but the majority of cases (n = 20) developed symptoms within their first eight years of life. A conclusive diagnosis was reached in 27 cases. Monoamine neurotransmitter disorders, neurodegeneration with brain iron accumulation syndromes, hypomyelination with atrophy of the basal ganglia and cerebellum, and syndromes with inborn errors of metabolism were the most common diagnoses. Brain MRI was crucial for reaching a diagnosis by examining the structural integrity of the basal ganglia, the cerebral cortex, brain myelination and whether there was abnormal metal deposition. Pathophysiological mechanisms underlying anarthria/aphonia included dystonia, corticobulbar involvement, apraxia and abnormalities of brain development.

CONCLUSIONS:

The spectrum of conditions that may present with the syndrome of dystonia with anarthria/aphonia is broad. Various causes may account for the profound speech disturbance. A practical brain MRI-based algorithm is provided to aid the diagnostic procedure.

KEYWORDS:

Anarthria; Aphonia; Dystonia; Speech disorder

[Indexed for MEDLINE]

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