ABSTRACT
Abstract Aromatic L-Amino acid decarboxylase (AADC) deficiency is a rare neurometabolic disorder due to a homozygous or compound heterozygous pathogenic variant of the DDC gene, resulting in low synthesis of the biogenic amines dopamine, serotonin, epinephrine, and norepinephrine. Most patients had severe expression of the disease with global developmental delay, early hypotonia, movement disorders such as oculogyric crises, tremor, and dystonia. Oromandibular dystonia (OMD) is rarely recognized in patients with AADC deficiency. The aim of this study was to describe OMD in detail in 4 patients with AADC deficiency. OMD occurred in isolated form or in association with oculogyric crises, increasing the difficulty in care patients during the crises. The main form of OMD was tongue dystonia associated with mouth opening dystonia. AADC deficiency must be included in the list of genetic causes of OMD.
ABSTRACT
OBJECTIVE: To report demographic data from a large cohort of patients with oromandibular dystonia (OMD). METHODS: This is a retrospective review of patients with OMD referred to our institution between 1989 and 2015. Demographic (age of onset, gender, and familial history of dystonia) and clinical (type of OMD, associated dystonia, and etiology of dystonia) data were collected from a cohort of 240 individuals. RESULTS: The mean age of onset of OMD was 51.6 years old, with a female predominance (2:1). A family history of dystonia was found in 6 patients (2.5%). One hundred and forty-nine patients (62.1%) had the jaw-opening type of OMD, 48 patients (20.0%) had the jaw-closing type, and 43 patients (17.9%) had a mixed form of OMD. Lingual dystonia was also present in 64 (26.7%) of these patients. Eighty-two patients (34.2%) had a focal dystonia, 131 patients (54.6%) had a segmental dystonia, and 27 patients (11.3%) had a generalized dystonia. One hundred and seventy-one patients (71.3%) had idiopathic OMD. CONCLUSION: OMD is a chronic and disabling focal dystonia. Our study found a prevalence of female patients, an onset in middle age and a predominantly idiopathic etiology. Unlike other studies, jaw-opening was found to be the most frequent clinical type of OMD.
Subject(s)
Female , Humans , Middle Aged , Age of Onset , Cohort Studies , Demography , Dystonia , Dystonic Disorders , Movement Disorders , Prevalence , Retrospective StudiesABSTRACT
Oromandibular dystonia (OMD) is a focal dystonia that is characterized by repetitive or sustained spasms of the masticatory, facial, or lingual muscles. The etiology is idiopathic in most cases. A patient presenting with OMD associated with diabetic hyperglycemia is reported herein. A 74-year-old woman with a history of diabetes developed OMD. Brain MRI revealed a high signal intensity in the bilateral putamen on T1-weighted imaging. Nonketotic hyperglycemia was detected. The OMD gradually subsided with normalization of the hyperglycemia and medication with haloperidol over 10 days.
Subject(s)
Aged , Female , Humans , Basal Ganglia , Brain , Dystonia , Dystonic Disorders , Haloperidol , Hyperglycemia , Magnetic Resonance Imaging , Muscles , Putamen , SpasmABSTRACT
We have reported a case series of five patients with jaw-opening oromandibular dystonia secondary to Wilson's disease (WD), in which the patients were treated with botulinum toxin type A (BTX-A). In all cases, dystonia score was partially reduced three weeks after injections. The most common side effect was transient mild dysphagia. This preliminary study showed that jaw-opening oromandibular dystonia in WD may be partially responsive to the use of BTX-A.
Relata-se uma série de cinco casos de distonia oromandibular com abertura da boca, secundária à doença de Wilson, em que os pacientes foram tratados com toxina botulínica tipo A. Em todos os casos, a distonia oromandibular com abertura da boca foi parcialmente reduzida três semanas após as injeções. O efeito adverso mais comum foi a disfagia leve e transitória. Este estudo preliminar mostrou melhora parcial da distonia oromandibular com abertura da boca.