The clinical syndrome of dystonia with anarthria/aphonia

TY - JOUR

T1 - The clinical syndrome of dystonia with anarthria/aphonia

AU - Ganos, Christos

AU - Crowe, Belinda

AU - Stamelou, Maria

AU - Kresojević, Nikola

AU - Lukić, Milica Ječmenica

AU - Bras, Jose

AU - Guerreiro, Rita

AU - Taiwo, Funmilola

AU - Balint, Bettina

AU - Batla, Amit

AU - Schneider, Susanne A

AU - Erro, Roberto

AU - Svetel, Marina

AU - Kostić, Vladimir

AU - Kurian, Manju A

AU - Bhatia, Kailash P

N1 - Copyright © 2016 Elsevier Ltd. All rights reserved.

PY - 2016/3

Y1 - 2016/3

N2 - 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.

AB - 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.

U2 - 10.1016/j.parkreldis.2016.01.022

DO - 10.1016/j.parkreldis.2016.01.022

M3 - SCORING: Journal article

C2 - 26924602

VL - 24

SP - 20

EP - 27

JO - PARKINSONISM RELAT D

JF - PARKINSONISM RELAT D

SN - 1353-8020

ER -