Humans ; Mutation ; Primary Dysautonomias/etiology* ; Sleep Initiation and Maintenance Disorders/etiology*

Spinal muscular atrophy (SMA) is a rare neuromuscular disease characterized by degeneration of the anterior horn cells of the spinal cord and motor nuclei in the lower brainstem, resulting in hypotonia, progressive proximal muscle weakness, paralysis, and progressive respiratory insufficiency. We report the case of a 6-year-old girl diagnosed with spinal muscular atrophy type 1 (Werdnig-Hoffman disease) who has been treated at home with non-invasive ventilation (assist-control mode with a back-up respiratory rate of 26 per minute). She presented with an atrioventricular block and atrial fibrillation, as well as paroxysmal fluctuation of blood pressure and heart rate indicating autonomic dysfunction. Although it is known that patients with spinal muscular atrophy type 1 do not generally demonstrate cardiac problems, it can be concluded based on findings in our case that long-term survivors with spinal muscular atrophy type 1 may develop cardiac rhythm disturbances. We therefore recommend that the possibility of cardiac complications and autonomic dysfunction should be borne in mind in the management of such patients.
Anterior Horn Cells ; Atrial Fibrillation ; Atrioventricular Block ; Blood Pressure ; Brain Stem ; Child ; Female ; Heart Rate ; Humans ; Muscle Hypotonia ; Muscle Weakness ; Muscular Atrophy ; Muscular Atrophy, Spinal ; Neuromuscular Diseases ; Noninvasive Ventilation ; Paralysis ; Primary Dysautonomias ; Respiratory Insufficiency ; Respiratory Rate ; Spinal Cord ; Survivors

BACKGROUND AND PURPOSE: We investigated the frequency and clinical features of restless legs syndrome (RLS) in patients with Parkinson's disease (PD). METHODS: This study included 74 PD patients. RLS was diagnosed in face-to-face assessments of all of the subjects based on diagnostic criteria of the International Restless Legs Syndrome Study Group revised in 2003. We analyzed the clinical features of PD patients with and without RLS and compared the data to idiopathic RLS. RESULTS: The frequency of RLS in the cohort was 21.6% (n=16). Two (12.5%) of the patients with RLS were not treated with dopaminergic drugs, while 14 (24.1%) of the 58 patients without RLS received treatment with dopaminergic drugs. Anxiety, depression, and quality of life (QoL) were significantly worst in patients with RLS. PD patients with RLS had significantly worse sleep quality (p=0.003) and worse scores on the cardiovascular subscale of the Scales for Outcomes in Parkinson's Disease for Autonomic Symptoms (p=0.031) compared to those without RLS. In the group of PD patients with RLS, RLS preceding PD onset was related to a lower Hoehn and Yahr stage. CONCLUSIONS: We found that the frequency of RLS in the present patients with PD was higher than that in our previous study of a general population of RLS subjects. Compared to the PD patients without RLS, the present PD patients with RLS suffered from worse sleep quality and QoL, depression, anxiety, and autonomic disturbances, especially those with cardiovascular problems.
Anxiety ; Cohort Studies ; Depression ; Dopamine Agents ; Humans ; Parkinson Disease ; Prevalence ; Primary Dysautonomias ; Quality of Life ; Restless Legs Syndrome ; Weights and Measures

The causes of sudden death after medullary infarction involve arrhythmia, central respiratory failure, and dysautonomia. Sudden cardiac arrest in a medullary infarction is uncommon. Most of these cases experienced sudden cardiopulmonary arrest within 2 weeks from stroke onset as the extent of lesion increased. Here, we report two cases of medullary infarction presenting as sudden cardiac arrest. These cases indicate that medullary infarction could be one of the causes of sudden cardiac arrest.
Arrhythmias, Cardiac ; Death, Sudden ; Death, Sudden, Cardiac ; Heart Arrest ; Infarction ; Medulla Oblongata ; Primary Dysautonomias ; Respiratory Insufficiency ; Stroke

Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is a slowing progressive ataxic disorder characterized by bilateral vestibulopathy, cerebellar ataxia and somatosensory impairment. Autonomic dysfunction is recently considered as a core feature in CANVAS in addition to these symptoms. In most cases, patients with CANVAS show cerebellar atrophy in brain imaging, but some cases show minimal or no atrophy of cerebellum. Brain (18F)-fluoro-2-deoxy-D-glucose positron emission tomography (¹⁸F-FDG PET) study can be a complimentary tool to diagnosis CANVAS in cases of no structural abnormality such as cerebellar atrophy. Hereby, we present a case of CANVAS with minimal atrophy of cerebellum but showing a prominent hypometabolism in cerebellum, thalamus and posterior cingulate cortex in ¹⁸F-FDG PET.
Atrophy ; Brain ; Cerebellar Ataxia ; Cerebellum ; Diagnosis ; Gyrus Cinguli ; Humans ; Neuroimaging ; Positron-Emission Tomography ; Primary Dysautonomias ; Thalamus ; Vestibular Neuronitis

BACKGROUND AND PURPOSE: Parkinson's disease (PD) and multiple-system atrophy of the parkinsonian type (MSA-P) are progressive neurodegenerative disorders that in addition to dysfunction of the motor system also present with features of dysautonomia, frequently manifesting as orthostatic hypotension (OH). The pathophysiology of OH has been proposed to differ between these two disorders. This study investigated the spontaneous and cardiovagal baroreflex sensitivity (BRS) in Parkinson's disease patients with orthostatic hypotension (PD(OH)) and multiple system atrophy of Parkinsonian type with orthostatic hypotension in an attempt to differentiate the two disorders. METHODS: Two methods were used for determining the BRS: a spontaneous method (spontaneous BRS) and the reflexive baroreflex gain (cardiovagal BRS) from phases II and IV of the Valsalva maneuver (VM) in PD(OH) and MSA-P(OH). RESULTS: The spontaneous BRS (5.04±0.66 ms/mm Hg vs. 4.78±0.64 ms/mm Hg, p=0.54) and the cardiovagal BRS from phase II of the VM (0.96±0.75 ms/mm Hg vs. 1.34±1.51 ms/mm Hg, p=0.76) did not differ between PD(OH) and MSA-P(OH), but the cardiovagal BRS from phase IV of the VM (0.03±0.07 ms/mm Hg vs. 2.86±2.39 ms/mm Hg, p=0.004) was significantly lower in PD(OH). CONCLUSIONS: The cardiovagal BRS from phase IV of the VM has potential for differentiating PD(OH) and MSA-P(OH), indicating a difference in the pathophysiological mechanisms underlying the autonomic dysfunction in the two disorders.
Atrophy* ; Baroreflex* ; Humans ; Hypotension, Orthostatic ; Multiple System Atrophy ; Neurodegenerative Diseases ; Parkinson Disease* ; Primary Dysautonomias ; Reflex ; Valsalva Maneuver

BACKGROUND AND PURPOSE: Postural tachycardia syndrome (POTS) is a syndrome of orthostatic intolerance in the setting of excessive tachycardia with orthostatic challenge, and these symptoms are relieved when recumbent. Apart from symptoms of orthostatic intolerance, there are many other comorbid conditions such as chronic headache, fibromyalgia, gastrointestinal disorders, and sleep disturbances. Dermatological manifestations of POTS are also common and range widely from livedo reticularis to Raynaud's phenomenon. METHODS: Questionnaires were distributed to 26 patients with POTS who presented to the neurology clinic. They were asked to report on various characteristics of dermatological symptoms, with their answers recorded on a Likert rating scale. Symptoms were considered positive if patients answered with "strongly agree" or "agree", and negative if they answered with "neutral", "strongly disagree", or "disagree". RESULTS: The most commonly reported symptom was rash (77%). Raynaud's phenomenon was reported by over half of the patients, and about a quarter of patients reported livedo reticularis. The rash was most commonly found on the arms, legs, and trunk. Some patients reported that the rash could spread, and was likely to be pruritic or painful. Very few reported worsening of symptoms on standing. CONCLUSIONS: The results suggest that dermatological manifestations in POTS vary but are highly prevalent, and are therefore of important diagnostic and therapeutic significance for physicians and patients alike to gain a better understanding thereof. Further research exploring the underlying pathophysiology, incidence, and treatment strategies is necessary.
Arm ; Exanthema ; Fibromyalgia ; Headache Disorders ; Humans ; Incidence ; Leg ; Livedo Reticularis ; Neurology ; Orthostatic Intolerance ; Postural Orthostatic Tachycardia Syndrome* ; Primary Dysautonomias ; Tachycardia ; Varicose Veins

A 36-year old nulligravid who initially presented with a one-week history of flu-like symptoms suddenly developed behavioral changes, agitation and irritability. Diagnostic tests were done and empiric treatment for viral encephalitis were initiated. Symptoms persisted with progressive unresponsiveness and episodes of seizure. Hypoventilation from dysautonomia required mechanical ventilation. Elevated levels of immunoglobulin on cerebrospinal fluid (CSF) and deterioration despite treatment raised suspicion for an autoimmune encephalitis. A referral to a gynecologist to rule out an ovarian focus was done. Ultrasound and biopsy established the presence of ovarian teratoma. The diagnosis of anti-N-methy-D-Aspartate receptor encephalitis was confirmed when the patient's serum and CSF tested positive for these antibodies. In addition, her CSF was also positive for anti-alpha-amino-3-hydroxy-5-methylisoxazole-4 propionic acid receptor (Anti-AMPar) antibodies. In the Philippines, this was the second documented case of Anti-NMDar encephalitis associated with ovarian teratoma and the first to have antibodies present causing encephalitis.

Human ; Female ; Adult ; Anti-n-methyl-d-aspartate Receptor Encephalitis ; Hashimoto's Encephalitis ; Aspartic Acid Receptor ; Teratoma, Ovarian ; Hashimoto Disease ; Ovarian Neoplasms ; Primary Dysautonomias

Autoimmune autonomic ganglionopathy is a form of acquired autonomic failure affecting parasympathetic, sympathetic functions, usually affecting healthy young people. The disorder affects both sympathetic and parasympathetic nervous systems, with acute onset, monophasic course, and partial recovery with relative preservation of motor and sensory function. We experienced a case of young man with acute autoimmune autonomic ganglionopathy who developed voiding difficulty, sudden blurred vision and gastrointestinal discomfort without motor or sensory dysfunction. Fever developed 5 days earlier and persisted until onset of autonomic failure. Patient complained voiding difficulty and urodynamic study revealed detrusor are flexia with failure to initiate and sustain adequate detrusor contraction. Sympathetic skin response and several autonomic function tests showed abnormalities. Intravenous immunoglobulin was applied for 5 days but symptoms persisted. Thus, 5 days of plasmapheresis treatment was followed showing improvements in most of the symptoms. However bladder dysfunction persisted at 6 months follow-up, showing partial recovery at bethanechol administration.
Bethanechol ; Fever ; Follow-Up Studies ; Humans ; Immunoglobulins ; Parasympathetic Nervous System ; Plasmapheresis ; Primary Dysautonomias ; Sensation ; Skin ; Urinary Bladder ; Urinary Bladder, Neurogenic* ; Urodynamics

We present a case of an 8-year-old boy with visceral autonomic neuropathy complicated by Guillain-Barre syndrome. In this pediatric patient, gastroparesis was the major symptom among the autonomic symptoms. Due to the gastroparesis, there was no progress with the oral diet, and nutrition was therefore supplied through a nasojejunal tube and gastrojejunal tube via Percutaneous endoscopic gastrostomy (PEG). After tube feeding for 9 months, the patient's gastrointestinal symptoms improved and his oral ingestion increased. The pediatric patient was maintained well without gastrointestinal symptoms for 3 months after removal of the PEG, had repeated vomiting episodes which lead to the suspicion of cyclic vomiting syndrome. Then he started treatment with low-dose amitriptyline, which resulted in improvement. Currently, the patient has been maintained well for 6 months without recurrence, and his present growth status is normal.
Amitriptyline ; Child* ; Diet ; Eating ; Enteral Nutrition ; Gastroparesis ; Gastrostomy ; Guillain-Barre Syndrome* ; Humans ; Male ; Primary Dysautonomias ; Recurrence ; Vomiting*