Humans ; Motor Neuron Disease/diagnosis* ; Neoplasms

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

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

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

Hirayama disease is a slowly progressing benign motor neuron disease that affects the distal upper limb. A 29-year-old man visited the hospital with a 1-year history of weakened left proximal upper limb. He was diagnosed with Hirayama disease 9 years ago, while there was no further progression of the muscle weakness afterward. Atrophy and weakness was detected in proximal upper limb muscles. Magnetic resonance imaging and somatosensory evoked potentials were normal. Needle electromyography showed abnormal findings in proximal upper limb muscles. Our patient had Hirayama disease involving the proximal portion through secondary progression. Clinical manifestation and accurate electromyography may be useful for diagnosis. Rare cases with progression patterns as described here are helpful and have clinical meaning for clinicians.
Adult ; Atrophy ; Diagnosis ; Electromyography ; Evoked Potentials, Somatosensory ; Humans ; Magnetic Resonance Imaging ; Motor Neuron Disease ; Muscle Weakness ; Muscles ; Needles ; Upper Extremity

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

Flail arm syndrome (FAS) is a variant of the amyotrophic lateral sclerosis also known as Lou Gehrig's disease. FAS is a kind of motor neuron disease that represents a bilateral proximal muscle wasting of upper extremities. Degenerative cervical spondylosis is a common cause of cervical myelopathy and radiculopathy. The coexistence of cervical spondylosis and motor neuron disease can cause difficulties in diagnosis and treatment. This case is a cervical spondylotic myelopathy associated with FAS who had undergone surgical treatment. After the operation, subjective symptoms of the patient was more aggravated and it may be owing to natural history of FAS. The surgical treatment must be made very carefully in cervical spondylotic myelopathy patient combined with motor neuron disease.
Amyotrophic Lateral Sclerosis ; Arm* ; Diagnosis ; Humans ; Motor Neuron Disease ; Natural History ; Radiculopathy ; Spinal Cord Diseases* ; Spondylosis ; Upper Extremity

Acute transverse myelitis (ATM) is an upper motor neuron disease of the spinal cord, and concomitant association of peripheral polyneuropathy, particularly the axonal type, is rarely reported in children. Our cases presented with ATM complicated with axonal type polyneuropathy. Axonal type polyneuropathy may be caused by acute motor-sensory axonal neuropathy (AMSAN) or critical illness polyneuropathy and myopathy (CIPNM). These cases emphasize the need for nerve and muscle biopsies to make the differential diagnosis between AMSAN and CIPNM in patients with ATM complicated with axonal polyneuropathy.
Axons* ; Biopsy ; Child* ; Diagnosis, Differential ; Humans ; Motor Neuron Disease ; Muscular Diseases ; Myelitis, Transverse* ; Polyneuropathies* ; Spinal Cord

Approximately 15% of patients with frontotemporal dementia (FTD) have co-occurring motor neuron disease (MND). FTD-MND cases have frontotemporal lobar degeneration (FTLD)-transactive response DNA-binding protein (TDP) pathology, which is divided into four subtypes (types A, B, C, and D) based on the morphological appearance, cellular location, and distribution of the abnormal TDP inclusions and dystrophic neurites. We report a patient with FTD-MND whose pathological diagnosis was FTLD-TDP type B. This is the first documented autopsy-confirmed case of FTD-MND in Korea.
Autopsy* ; Diagnosis ; Frontotemporal Dementia* ; Frontotemporal Lobar Degeneration ; Humans ; Korea ; Motor Neuron Disease* ; Motor Neurons* ; Neurites ; Pathology