• Journal of Electrodiagnosis and Neuromuscular Diseases
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• v.20 no.2
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• pp.112-118
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• 2018

We describe a case of a 71-year-old male patient who experienced progressive bilateral proximal upper limb weakness and atrophy without sensory symptoms and signs over 5 years. Electromyography demonstrated denervation potentials and neuropathic motor unit action potentials on C5-C7 myotome muscles bilaterally. Cervical spine magnetic resonance imaging revealed engorged anterior epidural venous plexus, T2 hyperintensity localized to grey matter ("snake-eye" appearance) at C2-C6 vertebral level, and ventral epidural fluid collection from C6 to T8 vertebral level. This case indicates that bibrachial amyotrophy associated with epidural fluid leak should be suspected in patients presenting with progressive bilateral upper limb weakness and atrophy without sensory involvement.

• Journal of International Academy of Physical Therapy Research
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• v.10 no.1
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• pp.1734-1738
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• 2019

Background: Stroke patients usually have arm weakness, which affects trunks and arms. Objective: To investigate the effects of paretic side and non-paretic side arm training on trunk control and upper limb functions. Design: Randomized Controlled Trial (single blind). Methods: Twenty patients with stroke in hospital were enrolled in the study. Twenty subjects were randomly assigned to paretic side arm training group (PATG, n = 10) or non-paretic side arm training group (NATG, n = 10). Trunk impairment scale (TIS) was used for trunk control, and box and block test (BBT) was used for upper limb function. Training was conducted for 4 weeks. Results: PATG showed significant difference in TIS (static balance, dynamic balance, coordination, total score) and BBT. NATG showed significant differences in static balance, and dynamic balance and total score except for coordination and BBT. PATG also showed a more significant difference in BBT and coordination and total score than NATG. Conclusions: The arm training performed on the paretic side are more effective than those performed on the non-paretic side in improving both upper limb function and trunk control in stroke patients.

• Annals of Clinical Neurophysiology
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• v.6 no.2
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• pp.65-74
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• 2004

Limb-girdle muscular dystrophy (LGMD) is a heterogeneous group of inherited muscle disorders caused by the mutations of different genes encoding muscle proteins. In the past, when the molecular diagnostic techniques were not available, the subtypes of muscular dystrophies were classified by the pattern of muscle weakness and the mode of inheritance, and LGMD had been considered as a 'waste basket' of muscular dystrophy because many unrelated heterogeneous cases with 'limb-girdle' weakness were put into the category of LGMD. With the advent of molecular genetics at the end of the last century, it has been known that there are many subtypes of LGMD caused by the mutation of different genes, and now, LGMD is classified according to the results of the linkage analysis and the genes or proteins affected. Only small proportion (probably less than 10%) of LGMD is dominantly inherited, and autosomal dominant LGMD (AD-LGMD) consists of six subtypes (LGMD1A to 1F) so far. In autosomal recessive LGMD (AR-LGMD), more than 10 subtypes (LGMD2A to 2J) have been linked and most of the causative genes have been identified. Among AR-LGMDs, LGMD2A (calpain 3 deficiency), 2B (dysferlin deficiency), and sarcoglycanopathy (LGMD2C-2F) are major subtypes. The defective proteins in LGMDs are components of nuclear envelope, cytosol, sarcomere, or sarcolemma, and seem to play a different role in the pathogenesis of muscular dystrophy. It is notable that many causative genes of LGMDs are also responsible for other categories of muscular dystrophy or diseases affecting other tissue. However, by which mechanism they produce such a broad phenotypic variability is still unknown. The identification of mutation in the relevant gene is confirmative for the diagnosis, and is essential for genetic counseling and antenatal diagnosis of LGMD. Because many different genes are responsible for LGMD, differentiation of subtypes using immunohistochemistry and western blotting is the essential step toward the detection of mutation. For the effective research and medical care of the patients with muscular dystrophy in Korea, a research center with a medical facility supported by the government seems to be needed.

• Journal of The Korean Society of Integrative Medicine
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• v.9 no.2
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• pp.105-108
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• 2021

Background : Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is a rare, autosomal recessive metabolic disorder which is caused by genetic mutations that disrupt the urea cycle. It is characterized by variable clinical presentation and the age of onset. Patients may present with gait disturbance and progressive paraplegia and muscle tightness in the lower extremities. The use of botulinum toxin in metabolic disease has rarely been discussed. We describe a case of a 14-year-old-boy with HHH syndrome, who presented with a several - month history of gait disturbance and lower extremity weakness. Case presentation : A 14-year old male had a history of recurrent upper respiratory tract infections, occasional vomiting, loss of appetite, and general weakness, all of which started since he was 10 months old. He was diagnosed with HHH syndrome at one year of age. At the age of 14, he was referred for the assessment and treatment of his gait disturbance and aggravated weakness of the lower extremities. Brain MRI, electrodiagnostic study and blood test were performed to exclude any lesions related to neurologic dysfunction. Botulinum toxin type A were injected into muscles of adductor longus, adductor magnus, lateral and medial hamstring, and lateral and medial gastrocnemius muscle heads under needle electromyography guidance to reduce lower limb spasticity. Intensive physical therapy including gait training and stretching exercise of adductor and calf muscles were also provided. After intensive physical therapy and botulinum toxin injection to reduce lower limb spasticity, he was able to ambulate for 20 meters independently without any walking aids. There were no adverse events after the injection. Conclusion : Botulinum toxin injection is a safe and effective therapy for patients with HHH syndrome who suffer from gait disturbance.

• Journal of Genetic Medicine
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• v.10 no.2
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• pp.94-98
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• 2013

Dystrophinopathy, caused by mutations in the DMD gene, presents with variable clinical phenotypes ranging from the severe Duchenne muscular dystrophy (DMD) to the milder Becker muscular dystrophy(BMD) forms. DMD is a recessive X-linked form of muscular dystrophy. Two-thirds of mothers of affected males are thought to be DMD carriers. Approximately 2.5-7.8% of female DMD carriers have muscle weakness and are categorized as manifesting DMD carriers. The symptoms of female carriers of DMD range from mild muscle weakness to severe gait problems. The most commonly presented symptom is mild proximal muscle weakness, which is often asymmetric and progressive, but shows variable clinical spectrum with BMD of more severe DMD-like phenotype. Atypical presentations in manifesting carriers are myalgia or cramps without limb weakness, isolated cardiomyopathy and camptocormia. Multiplex PCR and MLPA analysis are common techniques to identify mutations in the DMD gene. Relationship between X-chromosome inactivation and clinical severity is not clear. Female carriers of DMD are not less common, and they have an important role of birth of a male DMD.

• The Journal of Internal Korean Medicine
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• v.24 no.4_2
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• pp.975-986
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• 2003

Introduction: Guillain-Barre syndrome(GBS) is defined as a recognizable clinical entity that is characterized by rapidly evolving symmetric limb weakness, a loss of tendon reflexes, absent or mild sensory signs, and variable autonomic dysfunctions. Recently there is an opinion that Acute Inflammatory Demyelinating Polyradiculoneuropathy'(AIDP) is more effective than 'GBS' for the symptoms. These symptoms are applicable to rheumatic arthritis(痺), flaccid paralysis of limb(?) caused by wind, cold and dampness(風, 寒, 濕) from an oriental medical view point. On this, we reported one case that diagnosed as 'complex of rheumatic arthritis(痺) and flaccid paralysis of limb(?)' at our oriental medical hospital. Result: we considered these symptoms as 'complex of rheumatic arthritis(痺), flaccid paralysis of limb(?)'. In accordance with the result, we treated the patient with Chung-Sang Tong-Jung On-Ha(淸上通中溫下). We concluded that external factors such as wind, cold and dampness(風, 寒, 濕) and internal factors like vital energy's disharmony(生氣不調和) affected the patient.

• Journal of Physiology & Pathology in Korean Medicine
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• v.19 no.6
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• pp.1689-1693
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• 2005

In this case, it is considered that the cause of the lower limb Flaccidity-syndrome is the peripheral neuropathy accompanied with inflammation and in oriental medicine, it is understood that the factors such as lung fluid consumption caused by heat-evil, wetness-heat evil cause the lower limb Flaccidity-syndrome. Because the peripheral neuropathy is regarded as a neuropathy with a series of inflammation reaction producing inflammatory neuropeptides such as substance P, prostaglandin ect., in western medicine, nonsteroidal antiinflammation drug;NASID, lidocaine, capsaicine are prescribed to control this neuropathy. In the view of treatment of the lower limb weakness, Wooseul-tangkami is used to remove the wetness-heat evil and we had a electronic acupuncture on the Yangmyung channel(陽明經) selected in The Yellow Emperor's of internal Medicine and also on Panggwang channel(膀胱經) considered as painful lesion. We experineced a case of the lower limb Flaccidity-syndrome diagnosed as the peripheral neuropathy the patient was treated by wooseul-tangkami, a acupuncture on Yangmyung channel and also Panggwang channel and had a significant improvement in gait ability and the range of motion.

• Journal of Haehwa Medicine
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• v.16 no.1
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• pp.191-197
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• 2007

Gak-gi-byung in Korean Medicine have many things in common with Beriberi disease, Guillain-Barre syndrome, Transverse myelitis and Cauda equina syndrome. Dong-Ui-Bo-Gam define Gak-gi-byung as syndrome that includes sudden lower limbs weakness, pain and edema. Gak-gi-byung start from the foregoing symptoms and could progress to general digestive, neurological or respiratory symptoms is found on many medical practitioners. In this case, we described a 60-years old man diagnosed as Gak-gi-byung in Korean Medicine. He complained Rt lower limb weakness, Rt Knee Clumsiness and limitation of his Rt knee & ankle motor. And his condition was improved through Korean Medical treatment such as acupuncture and herbal medicine like 'Chung-yul-sa-seup-tang' about 15 days.

• Clinical and Experimental Pediatrics
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• v.57 no.10
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• pp.457-460
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• 2014

A flaccid tetraparesis in Bickerstaff's brainstem encephalitis (BBE) is presumed to be a sign of overlapping Guillain-Barr$\acute{e}$ syndrome (GBS). In addition, BBE and Fisher syndrome, which are clinically similar and are both associated with the presence of the immunoglobulin G anti-GQ1b antibody, represent a specific autoimmune disease with a wide spectrum of symptoms that include ophthalmoplegia and ataxia. A 2-year-old boy presented with rapidly progressive ophthalmoplegia, ataxia, hyporeflexia, weakness of the lower extremities, and, subsequently, disturbance of consciousness. He experienced bronchitis with watery diarrhea and had laboratory evidence of recent infection with Epstein-Barr virus (EBV). He was diagnosed as having overlapping GBS and BBE associated with EBV and received treatment with a combination of immunoglobulin and methylprednisolone, as well as acyclovir, and had recovered completely after 3 months. In addition, he has not experienced any relapse over the past year. We suggest that combinations of symptoms and signs of central lesions (disturbance of consciousness) and peripheral lesions (ophthalmoplegia, facial weakness, limb weakness, and areflexia) are supportive of a diagnosis of overlapping GBS and BBE and can be helpful in achieving an early diagnosis, as well as for the administration of appropriate treatments.

• Herbal Formula Science
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• v.17 no.2
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• pp.195-201
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• 2009

Objectives : To evaluate the efficacy of herbal medicine on CRF, clinical study on one case of 48 year old male patient of CRF was performed. The patient complained of general weakness and anorexia, dizziness and both lower limb edema. Methods : According to the Differentiation of Symptoms(變證), the patient was classified as weakness(虛勞) prescribed Sipjeondaebo-tang(十全大補湯) as well as acupuncture and moxibustion. treatment. Change of BUN, Creatinine, Hgb, Albumin, VAS of weakness and urine volume was compared before and after treatment for 3 months. Results : After such treatments, the level of BUN and creatinine was decreased and the volume of urine was increased. Conclusion : Herbal medicine Sipjeondaebo-tang with acupuncture and moxibustion treatment would be efficient to the patient of CRF.