Humans ; Motor Neuron Disease/diagnosis* ; Neoplasms

Xiaoxuming Decoction is an ancient classic herbal formula for the treatment of stroke. In ancient times, the connotation of stroke was very extensive, including facial neuritis, acute cerebral infarction, acute cerebral hemorrhage, sequelae of cerebral hemorrhage, unexplained weakness of limbs, cervical spondylosis, acute myelitis, acute radiculitis, Guillain Barre syndrome, multiple sclerosis, myasthenia gravis, motor neuron disease, dermatomyositis, hypokalemic paralysis peripheral neuritis. It has been identified that: ①Xiaoxuming Decoction is very common in the treatment of cerebrovascular diseases, such as cerebral infarction, cerebral hemorrhage and other cerebrovascular diseases, facial neuritis, acute myelitis, acute radiculitis, Guillain Barre syndrome, unexplained limb weakness, multiple sclerosis, motor neuron disease, myasthenia gravis, and rheumatic and immune system diseases, such as dermatomyositis, and can not only alleviate symptoms, but also improve prognosis and the long-term survival rate. ②Sudden limb failure, facial paralysis, and hypoalgesia without heat syndrome are the key indications of Xiaoxuming Decoction. ③This is a special prescription for the treatment of acute facial neuritis, and can cure in one week in the combination with moxibustion. ④In the treatment of facial neuritis complicated with hypertension or acute cerebrovascular disease, Xiaoxuming Decoction generally has a certain antihypertensive effect, without any hypertensive effect, which reflected its two-way regulatory effect for blood pressure. ⑤In the treatment of unknown limb weakness, acute myelitis, acute radiculitis, Guillain Barre syndrome, Xiaoxuming Decoction can rapidly alleviate the symptoms. ⑥This is the basic formula for multiple sclerosis and motor neuron disease. Long term use of Xiaoxuming Decoction can alleviate the symptom of limb weakness, reduce the occurrence of complications and delay the progress of the disease, but with a poor long-term prognosis. ⑦In the treatment of myasthenia gravis, Xiaoxuming Decoction can significantly improve muscle strength, and gradually help stop hormone reduction. After thymoma surgery, Xiaoxuming Decoction is also applicable to some patients with recurrent myasthenia gravis. ⑧Xiaoxuming Decoction also plays a role in the treatment of dermatomyositis and cervical spondylopathy. ⑨Raw ephedra is the monarch drug of Xiaoxuming Decoction, which is the key to the effect. The dosage starts with 6 g is titrated in a small dose and increases gradually. In addition, this formula is forbidden for those with red face, fast heart rate, high blood pressure, blocked stool, red tongue, yellow fur, wiry and rapid pulse or powerful pulse, and spout pulse.
Dermatomyositis ; Facial Nerve Diseases ; Guillain-Barre Syndrome ; Humans ; Motor Neuron Disease ; Multiple Sclerosis ; Myasthenia Gravis ; Myelitis ; Radiculopathy ; Spondylosis

Adult ; Aged ; Female ; Humans ; Male ; Middle Aged ; Motor Neuron Disease ; diagnosis ; Paraneoplastic Syndromes, Nervous System ; diagnosis

Patients with dysphagia often have difficulty in supplying adequate nutrition orally, and thus they often use gastrostomy for nutrition support. If the nutrition affects the deterioration of the disease, as in amyotrophic lateral sclerosis, the majority of patients will have a gastrostomy tube for proper nutrition. To prevent complications from gastrostomy tubes, it is important to educate the caregiver or patient about how to properly manage it. If these patients opt for home care because of financial or cultural reasons, it will be difficult for their healthcare team to observe them closely, leading to complications due to lax tube management. In this case, appropriate management education becomes more important. This paper reports an extremely rare case of duodenal intussusception caused by a migrated percutaneous radiologic gastrostomy (PRG) tube in a patient with amyotrophic lateral sclerosis (ALS) using simultaneous oral and enteral nutrition. The patient was treated successfully with urgent tube removal using the air reduction maneuver. This case highlights the importance of gastrostomy management.
Amyotrophic Lateral Sclerosis ; Caregivers ; Deglutition Disorders ; Education ; Enteral Nutrition ; Gastrostomy* ; Home Care Services ; Humans ; Intussusception* ; Motor Neuron Disease ; Patient Care Team

Multifocal motor neuropathy (MMN) is an uncommon, asymmetric motor neuropathy. As MMN is a treatable disorder, its differentiation from lower motor neuron disease is important. Evidence of conduction block (CB) or positive IgM anti-GM1 is considered one of important markers for the diagnosis. However, some patients with atypical MMN have no detectable CB or anti-GM1 antibody. We experienced a case of MMN with focal nerve enlargement on ultrasound. Ultrasound can be a valuable tool in supporting the diagnosis of MMN.
Diagnosis ; Humans ; Immunoglobulin M ; Motor Neuron Disease ; Peripheral Nervous System Diseases ; Ultrasonography

Multifocal acquired demyelinating sensory and motor neuropathy (MADSAM) is a peripheral neuropathy characterized by multifocal weakness and associated sensory impairment. MADSAM is associated with multifocal persistent conduction block and other signs of demyelination. The incidence of cranial nerve involvement in MADSAM was recently reported to be approximately 15%. However, reports of hypoglossal neuropathy occurring in MADSAM are rare. Unilateral hypoglossal neuropathy in MADSAM is usually misdiagnosed as motor neuron disease. We report a patient with MADSAM presenting with tongue hemiatrophy.
Cranial Nerves ; Demyelinating Diseases ; Diagnosis, Differential ; Humans ; Hypoglossal Nerve Diseases ; Incidence ; Motor Neuron Disease ; Motor Neurons ; Peripheral Nervous System Diseases ; Tongue

BACKGROUND/AIMS: With the notable exceptions of dementia, stroke, and motor neuron disease, relatively little is known about the safety and utility of percutaneous endoscopic gastrostomy (PEG) tube insertion in patients with neurodegenerative disease. We aimed to determine the safety and utility of PEG feeding in the context of neurodegenerative disease and to complete a literature review in order to identify whether particular factors need to be considered to improve safety and outcome. METHODS: A retrospective case note review of patients referred for PEG insertion by neurologists in a single neuroscience center was conducted according to a pre-determined set of standards. For the literature review, we identified references from searches of PubMed, mainly with the search items “percutaneous endoscopic gastrostomy” and “neurology” or “neurodegenerative disease.” RESULTS: Short-term mortality and morbidity associated with PEG in patients with neurological disease were significant. Age greater than 75 years was associated with poor outcome, and a trend toward adverse outcome was observed in patients with low serum albumin. CONCLUSIONS: This study highlights the relatively high risk of PEG in patients with neurodegenerative disease. We present points for consideration to improve outcome in this particularly vulnerable group of patients.
Dementia ; Gastrostomy* ; Humans ; Mortality ; Motor Neuron Disease ; Multiple Sclerosis ; Neurodegenerative Diseases* ; Neurosciences ; Parkinson Disease ; Retrospective Studies* ; Serum Albumin ; Stroke

BACKGROUND: Many studies have reported the association between several anti-neuronal antibodies and neurologic diseases. However, there is no useful autoantibody screening test for neurologic diseases unlike the antinuclear antibody test for rheumatologic diseases. Hence, we investigated the clinical utility of the autoimmune target (AIT) test as screening test for autoantibodies in neurologic diseases. METHODS: We retrospectively analyzed the results of the AIT test for 375 serum samples of patients diagnosed with several neurologic diseases such as motor neuron disease (MND), amyotrophic lateral sclerosis (ALS), Parkinson's disease (PD), encephalopathy (EC), polyneuropathy (PN), cerebral ischemic attack, encephalitis, myelitis, epilepsy, and stroke. RESULTS: The overall positive rate of the AIT test in aforementioned diseases was 77.9%. The positive rates for MND, ALS, PD, EC, PN, and the others were 81.3%, 83.9%, 84.8%, 59.3%, 73%, and 75%, respectively. CONCLUSIONS: Our results indicate high positive rates in the AIT test. We believe that the AIT test has potential application for autoantibody screening in the neurologic diseases. We look forward to last as the study about relations between the results of the AIT test and the specific antibodies for neurologic diseases.
Amyotrophic Lateral Sclerosis ; Antibodies ; Antibodies, Antinuclear ; Autoantibodies ; Brain Diseases ; Encephalitis ; Epilepsy ; Humans ; Mass Screening ; Motor Neuron Disease ; Myelitis ; Parkinson Disease ; Polyneuropathies ; Retrospective Studies ; Stroke

Motor neuron diseases (MNDs) refer to a heterogeneous group of progressive neurologic disorders caused by degeneration of motor neurons. The diseases affect either the upper motor neurons, lower motor neurons, or both, and are characterized by weakness, atrophy, fasciculation, spasticity, and respiratory failure. We report a case of a 61-year-old male patient with no past history of cardiovascular or pulmonary disease, who presented with only dyspnea, and no indication of any other symptom such as muscle weakness, atrophy, or bulbar dysfunction. Neuromuscular conduction study, including a study of the phrenic nerve, confirmed the diagnosis of MND. The patient greatly improved giving respiratory assistance at night, using a noninvasive ventilator. This case indicates that MNDs should be considered as differential diagnoses for patients showing acute respiratory failure of unknown causes. This report will aid in the prompt diagnosis and treatment of MNDs.
Atrophy ; Diagnosis ; Diagnosis, Differential ; Dyspnea ; Fasciculation ; Humans ; Lung Diseases ; Male ; Middle Aged ; Motor Neuron Disease* ; Motor Neurons* ; Muscle Spasticity ; Muscle Weakness ; Nervous System Diseases ; Phrenic Nerve ; Respiration, Artificial ; Respiratory Insufficiency* ; Ventilators, Mechanical

OBJECTIVETo explore the clinical application of droplet digital PCR (ddPCR) for genetic testing and prenatal diagnosis of spinal muscular atrophy (SMA) with deletion of SMN1 gene exon 7.

METHODSA total of 138 clinical samples, including 121 peripheral blood, 13 amniotic fluid, 2 umbilical cord blood and 2 chorionic villi from 56 SMA families, were tested by both ddPCR and multiplex ligation-dependent probe amplification (MLPA). Results of the two approaches were analyzed with commercial software QuantaSoft (ddPCR) and Coffalyser (MLPA), respectively.

RESULTSAmong the 138 cases, 25 had two copies, 84 had one copy, and 29 had null copy of exon 7 of the SMN1 gene. The results of ddPCR and MLPA were completely consistent.

CONCLUSIONAs a rapid, precise and economically efficient method, ddPCR will provide a new choice for genetic testing of SMA.

Adult ; DNA Copy Number Variations ; Family Health ; Female ; Gene Dosage ; Genetic Predisposition to Disease ; genetics ; Genetic Testing ; methods ; Humans ; Male ; Multiplex Polymerase Chain Reaction ; methods ; Muscular Atrophy, Spinal ; diagnosis ; embryology ; genetics ; Pedigree ; Pregnancy ; Prenatal Diagnosis ; methods ; Reproducibility of Results ; Sensitivity and Specificity ; Sequence Deletion ; Survival of Motor Neuron 1 Protein ; genetics