Amyotrophic lateral sclerosis (ALS) is a progressive fatal neurodegenerative disease involving both upper and lower motor neuron systems, and multiple pathogenic mechanisms are involved in death of motor neurons; including oxidative injury, excitotoxicity, mitochondrial dysfunction, immune-inflammatory process and abnormal protein aggregation. Clinically, the disease is characterized by muscle weakness and wasting, often beginning focally, and gradually progressing over 1 or more years to involve muscles of the limb and bulbar regions, diffusely. Diagnosis is established by documenting clinical and/or electrophysiological evidences of both upper and lower motor neuron dysfunction and excluding other diseases showing similar clinical manifestations. In this article, the issues on diagnostic criteria, differential diagnosis, and pathogenic mechanism-based potential therapeutic approaches of ALS are reviewed.
Amyotrophic Lateral Sclerosis* ; Diagnosis* ; Diagnosis, Differential ; Extremities ; Motor Neurons ; Muscle Weakness ; Muscles ; Neurodegenerative Diseases

OBJECTIVES: Entrapment of the suprascapular nerve is frequently overlooked in the differential diagnosis of shoulder pain. METHODS: Suprascapular entrapment neuropathy is a well-defined clinical entity and EMG and NCV is used to confirm a diagnosis. But the diagnosis is typically not considered until patients develop severe weakness secondary to atrophy of the spinous musculature that the nerve supplies. RESULTS: A narrow suprascapular notch has rarely been reported as a work-related factor of this entrapment neuropathy. Diagnosis of suprascapular entrapment neuropathy is based on the patients' clinical course, neurologic, radiologic, and electrophysiologic findings. One of the most helpful evaluations was the anteriorposterior projection with the X-ray tube angled 15-30 degree caudally. The suprascapular entrapment neuropathy is relatively uncommon entity of shoulder discomfort (pain, weakness, and atrophy). CONCLUSIONS: If the worker who used his shoulder joint repetitiously having the shoulder pain and muscle weakness, we must rule out the suprascapular entrapment neuropathy. And it is needed to evaluate the motions which cause suprascapular entrapment neuropathy as the ergonomic factor.
Atrophy ; Diagnosis ; Diagnosis, Differential ; Equipment and Supplies ; Humans ; Muscle Weakness ; Shoulder ; Shoulder Joint ; Shoulder Pain

A 30-year old female had proximal muscle weakness, periungal telangiectasia and purplish red erythema and edema on the face. Diagnosis of dermatomyositis was estabiiished by clinical manifestations, muscle enzyme study, electromyogram, histologic findings of skin and muscle. She was treated with systemic steroid with some improvemellt. About 1 year after the onset of dermatomyositis, aggravated skin lesion and exophthalmos were noted on right eyelid. Orbit computerized tomography scan showed maxillary carcinoma. She treated with systemic steroid, 5-fluorouracil and cis-platin with partial remission and some improvement of dermatomyositis.
Adult ; Dermatomyositis* ; Diagnosis ; Edema ; Erythema ; Exophthalmos ; Eyelids ; Female ; Fluorouracil ; Humans ; Muscle Weakness ; Orbit ; Skin ; Telangiectasis

A 76 year-old male had pruritic skin eruption, swallowing difficulty, dyspnes and generalized muscle weakness developed 6 weeks ago. Diagnosis of dermstomyositis was established by clinical manifestations, muscle enzyme study, electromyogram, histologic finding of skin and muscle. Advanced stomach cancer was found by gastroendoscopy. He was treated with radical subtotal gsstrectomy, systemic steroid, and then marked improved. Authors reviewed relevant literature.
Aged ; Deglutition ; Dermatomyositis* ; Diagnosis ; Humans ; Male ; Muscle Weakness ; Skin ; Stomach Neoplasms* ; Stomach*

Neuralgic amyotrophy (NA) is characterized by acute onset of severe pain, followed by muscular weakness and wasting of the shoulder girdle. While the diagnosis of NA mainly relies on the clinical history and examination, some investigations including electrophysiologic study and radiologic study may help to confirm the diagnosis. Magnetic resonance neurography (MRN), a new technique for the evaluation of peripheral nerve disorders, can be helpful in the diagnosis of NA. MRN presents additional benefits in comparison to conventional magnetic resonance imaging in the diagnosis of idiopathic NA (INA). In this report, we present the first four cases of classic INA diagnosed with MRN in subacute stage. MRN imaging modality should be considered in patients clinically suspected of INA.
Brachial Plexus Neuritis* ; Diagnosis ; Humans ; Magnetic Resonance Imaging ; Muscle Weakness ; Peripheral Nerves ; Shoulder

We experienced a 41-year-old male patient with the recurrent painful nodular swelling of muscles in both lower limbs for 4 years. The mass did not accompanied other general symptoms of muscle weakness and spontaneously regressed. On pathologic finding, there is marked inflammatory cell infiltration with muscle fiber destruction and regeneration. Analyzing the literature, we proposed the diagnosis of recurrent localized myositis.
Adult ; Diagnosis ; Humans ; Lower Extremity ; Male ; Muscle Weakness ; Muscles ; Myositis* ; Regeneration

Myasthenia gravis (MG) is an autoimmune disease that affects neuromuscular junctions and usually manifests with muscle weakness that exhibits diurnal variability. However, MG can present with atypical symptoms, including very rarely cases presenting with a flaccid type of dysphonia. We report the first case of spasmodic dysphonia with a final diagnosis of generalized MG, which occurred in a 32-year-old female.
Adult ; Autoimmune Diseases ; Diagnosis ; Dysphonia* ; Female ; Humans ; Muscle Weakness ; Myasthenia Gravis* ; Neuromuscular Junction ; Voice Quality

A boy aged 11 years was admitted due to intermittent weakness and difficulty in walking for 6 years, and hepatomegaly, glycopenia and unconsciousness for 4 years. The laboratory examinations showed severe metabolic acidosis, hypoglycemia, and abnormal liver function. CT scan showed marked liver enlargement with fat density shadow. The boy was given fluid infusion, correction of acidosis, intravenous injection of glucose, L-carnitine, compound vitamin B, and coenzyme Q10, but he was in a persistent coma and it was difficult to correct refractory metabolic acidosis and hypoglycemia. The boy died. Blood and urinary organic acid screening and gene detection confirmed that the boy had late-onset glutaric aciduria type II (GAIIc) caused by electron-transferring-flavoprotein dehydrogenase (ETFDH) gene defect. GAIIc is an inherited metabolic disease with a low incidence, resulting in a high misdiagnosis rate. GAIIc should be considered for children with recurrent weakness or reduced activity endurance, hypoglycemia, and marked liver enlargement with abnormal liver function. Urinary organic acid analysis and blood tandem mass spectrometry can help with the early diagnosis of GAIIc, and ETFDH gene analysis helps to make a confirmed diagnosis.
Child ; Hepatomegaly ; etiology ; Humans ; Hypoglycemia ; etiology ; Male ; Multiple Acyl Coenzyme A Dehydrogenase Deficiency ; diagnosis ; Muscle Weakness ; etiology

Collagen-VI-related myopathies are caused by mutations in the COL6A1, COL6A2, and COL6A3 and are known to have a wide phenotypic spectrum, including Bethlem myopathy, Ullrich congenital muscular dystrophy, intermediate phenotype, and limb-girdle muscular dystrophy. These patients present with joint hyperextensibility and/or contractures as well as skin changes and muscle weakness, and so clinicians need to notice those extramuscular symptoms in order to achieve a correct diagnosis. We describe the clinical, pathological, and radiological features in a family with Bethlem myopathy caused by a COL6A1 mutation.
Contracture ; Diagnosis ; Humans ; Joints ; Muscle Weakness ; Muscular Diseases ; Muscular Dystrophies ; Muscular Dystrophies, Limb-Girdle ; Phenotype ; Skin

The case is presented a 49-year-old man had several year history with chronic renal failure with hyperlipidemia due to diabetes mellitus. Treatment of hyperlipidemia was started by oral bezafibrate intake 600 mg per day. Several days later, patient noticed muscle weakness and myalgia. The serum CK, LDH, AST levels were remarkably elevated, myoglobulinuria was also noticed The symptoms of the patient were resolved after the drug was discontinued, thus the diagnosis was established as having bezafibrate induced rhabdomyolysis. On the basis of the above description, bezafibrate may induce muscle damage if dose is excess over the renal capacity. Extreme caution is warranted when the patient is placed on bezafibrate and has renal dysfunction.Strict dose adjustment is necessary in taking account of renal function to avoid muscle damage including rhabdomyolysis.
Bezafibrate ; Diabetes Mellitus ; Diagnosis ; Humans ; Hyperlipidemias ; Kidney Failure, Chronic ; Middle Aged ; Muscle Weakness ; Myalgia ; Rhabdomyolysis