Hemimasticatory Spasm: Report of a Case and Review of the Literature

Background:&nbsp;Hemimasticatory Spasm is a very rare disorder. Case report:&nbsp;A 62-year-old woman consulted with 30 years of unusual involuntary twitches in preauricular region and spasms that hamper jaw opening.&nbsp; During the spasms she cannot open her mouth for several seconds. At physical examination we observed hypertrophy of the masseter and temporalis&nbsp;muscles, shared features with Hemimasticatory Spasm. She was treated with botulinum toxin type A with excellent response. Discussion:&nbsp;Hemimasticatory Spasm is a rare movement disorder, but given the excellent response to botulinum toxin type A treatment, it should be considered in the spectrum of facial spasms.</p

Tonic spasms are a common clinical manifestation in patients with neuromyelitis optica Espasmos tônicos são manifestações clínicas frequentes em pacientes com neuromielite óptica

Tonic spasms have been most commonly associated with multiple sclerosis. To date, few reports of series of patients with neuromyelitis optica and tonic spasms have been published. Methods: We analyzed the characteristics and frequency of tonic spasms in 19 subjects with neuromyelitis optica. Data was collected using a semi-structured questionnaire for tonic spasms, by both retrospectively reviewing medical records and performing clinical assessment. Results: All patients except one developed this symptom. The main triggering factors were sudden movements and emotional factors. Spasms were commonly associated to sensory disturbances and worsened during the acute phases of the disease. Carbamazepine was most commonly used to treat the symptom and patients showed good response to the drug. Conclusions: Tonic spasms are a common clinical manifestation in patients with neuromyelitis optica.<br>Espasmos t&#244;nicos t&#234;m sido mais frequentemente associados com esclerose m&#250;ltipla. Foram publicados at&#233; agora poucos relatos de s&#233;rie de pacientes com neuromielite &#243;ptica e espasmos t&#244;nicos. M&#233;todos: Foram analisadas as caracter&#237;sticas e a frequ&#234;ncia de espasmos t&#244;nicos em 19 indiv&#237;duos com neuromielite &#243;ptica. Os dados foram coletados por meio de um question&#225;rio semiestruturado para espasmos t&#244;nicos, mediante a avalia&#231;&#227;o retrospectiva dos prontu&#225;rios e a an&#225;lise dos dados cl&#237;nicos Resultados: Todos os pacientes com neuromielite &#243;ptica exceto um apresentaram espasmos t&#244;nicos. Os principais fatores desencadeantes foram movimentos bruscos e fatores emocionais. Espasmos foram frequentemente associados a perturba&#231;&#245;es sensoriais e se agravaram durante a fase aguda da doen&#231;a. A carbamazepina foi utilizada frequentemente para tratar os sintomas, com boa resposta. Conclus&#245;es: Os espasmos t&#244;nicos s&#227;o manifesta&#231;&#245;es cl&#237;nicas frequentes em pacientes com neuromielite &#243;ptica

Tonic spasms are a common clinical manifestation in patients with neuromyelitis optica

Tonic spasms have been most commonly associated with multiple sclerosis. To date, few reports of series of patients with neuromyelitis optica and tonic spasms have been published. Methods: We analyzed the characteristics and frequency of tonic spasms in 19 subjects with neuromyelitis optica. Data was collected using a semi-structured questionnaire for tonic spasms, by both retrospectively reviewing medical records and performing clinical assessment. Results: All patients except one developed this symptom. The main triggering factors were sudden movements and emotional factors. Spasms were commonly associated to sensory disturbances and worsened during the acute phases of the disease. Carbamazepine was most commonly used to treat the symptom and patients showed good response to the drug. Conclusions: Tonic spasms are a common clinical manifestation in patients with neuromyelitis optica

Myoclonus and angiokeratomas in adult galactosialidosis

Galactosialidosis is an autosomal recessive lysosomal storage disorder characterized by a combined deficiency of b- galactosidase and a-neuraminidase, due to a defect of another lysosomal protein, cathepsin A. The latter, forms a complex with b-galactosidase and neuraminidase, and protects them against excessive proteolytic degradation. Three clinical phe- notypes had been described: a severe early infantile form; a milder late infantile type with minor mental deterioration; and a juvenile/adult form, mainly found in Japan, which is characterized by slowly progressive neurological symptoms, skeletal and eye abnormalities, dysmorphism, angiokerato- mas, and long survival.1 Herein, we report a case of galacto- sialidosis of the juvenile-adult form in a Peruvian girl with angiokeratoma corporis diffusum (ACD) and myoclonus. A 24-year-old woman presented a 5-year history of invol- untary movements. At age 19, she developed a progressive myoclonic disorder that started in the lower limbs and caused frequent falls. The myoclonus subsequently spreads to other body regions. Five years into the disease, she was almost wheelchair bound, and other activities such as eating and speaking were considerably affected. There were, how- ever, no seizures or cognitive decline.Physical examination revealed densely peppered red mac- ules ranging from 1 to 3 mm on palms, elbows, knees, oral mucosa, lips, and on thighs and loins in a bath- ing suit distribution. Biochemical analysis showed elevated urinary sialyloligosaccharides char- 1 acteristic for galactosialidosis.Fil: Abaroa, Luz. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; ArgentinaFil: Garretto, Nelida S.. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; ArgentinaFil: Arakaki, Tomoko. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; ArgentinaFil: Kauffman, Marcelo Andres. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; ArgentinaFil: González Morón, Dolores. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; ArgentinaFil: Figueredo, Alex M.. Gobierno de la Ciudad de Buenos Aires. Hospital General de Agudos "Ramos Mejía"; ArgentinaFil: Szlago, Marina. Fundación para el Estudio de las Enfermedades Neurometabólicas; ArgentinaFil: Verhagen Metman, Leo. Rush University Medical Center; Estados Unido