Marked Weakness Research Articles

Mutations in riboflavin transporter present with severe sensory loss and deafness in childhood

We have identified a large consanguineous Lebanese family with 5 individuals with severe childhood-onset recessive sensory loss associated with deafness and variable optic atrophy. Autozygosity mapping was performed in all affected individuals, followed by whole-exome sequencing (WES) in 2 individuals. WES identified a homozygous missense mutation (c.916G>A, p.G306R) in the cerebral riboflavin transporter SLC52A2, recently shown to cause Brown-Vialetto-Van-Laere syndrome (BVVLS), which is considered primarily a motor neuronopathy. Our patients have a phenotype distinct from BVVLS, characterized by severe progressive sensory loss mainly affecting vibration and proprioception that evolves to include sensorineural hearing loss in childhood, variable degrees of optic atrophy, and marked upper extremity weakness and atrophy. Treatment of 3 patients with 400 mg/day riboflavin over 3 months produced definite clinical improvement. Mutations in SLC52A2 result in a recognizable phenotype distinct from BVVLS. Early recognition of this disorder is critical, given its potential treatability.

G.P.283: A novel mutation in DNAJB6 gene causes a very severe early-onset LGMD1D disease

DNAJB6 was recently identified as a causative gene for limb-girdle muscular dystrophy type 1D (LGMD1D). DNAJB6 belongs to a class of co-chaperones characterized by a J-domain in the N-terminus. To date, six different mutations have been identified in several families from European, North American and Asian countries. The known mutations cause mainly adult onset, slowly progressive proximal muscle weakness, although occasional patients with earlier onset have been reported. The evolution of the disease has been very mild to moderate and respiratory involvement has not been reported. A Finnish family with four affected members, three siblings and their mother, has been studied extensively in the past decade. All patients presented with marked proximal lower limb weakness at the age of 10 to13 years and many reported some weakness from early childhood. Weakness progressed to proximal upper limbs and to some extent also to distal lower limb muscles causing walking difficulties in early adulthood. The mother became wheelchair bound at age 25. Respiratory involvement was a major problem in the family; two sisters had dyspnea in their late teens and their mother died of respiratory failure at age 33. A novel mutation in DNAJB6 was identified in the family as the cause of this very severe, early onset form of LGMD1D. Functional studies of the mutation indicate a more pronounced reduction of the antiaggregation capacity compared to previously known mutations.

Poster 67 Turkish Adaptation and Validity of the Work Productivity and Activity Impairment Questionnaire in Ankylosing Spondylitis

complaints of marked muscle atrophy and weakness in all four extremities leading to impaired mobility. Complaints began after self-injecting triamcinolone acetonide in her face for cosmetic reasons. From April 2012 to February 2013 she injected a total of 3-4 bottles from an unknown source into her cheeks, chin and forehead. In April 2013 she was admitted to an inpatient hospital medicine service for pituitary pan-suppression leading to hypothyroidism, adrenal insufficiency, hypertension and diabetes. She was discharged with outpatient endocrinology follow-up, and was non-compliant with prescribed steroid repletion. Over the subsequent months, she declined functionally and became wheelchair dependent for ambulation. At this time she was admitted to an acute inpatient rehabilitation unit. On admission, the patient had cushingoid features with atrophy of all extremities. Setting: Tertiary Care Teaching Hospital. Results or Clinical Course: The patient was diagnosed with steroid-induced myopathy causing severely impaired mobility, requiring interdisciplinary rehabilitation. Physical and occupational therapy were started at submaximal exertion and gradually increased in intensity. Upon completion of her therapy the patient was noted to have improved strength, ambulation and ADLs. Discussion: Triamcinolone acetonide is a glucocorticoid that is used in many conditions. An injectable suspension of triamcinolone is often used in Rehabilitation for the treatment of inflammatory conditions. High dose or prolonged use of corticosteroids may cause drug-induced adrenocortical suppression. This condition is often reversible but in some severe cases can cause irreparable suppression of the hypothalamic pituitary adrenal axis leading to iatrogenic Cushing’s Syndrome and myopathy. Conclusions: This case illustrates the effects of improper and prolonged use of corticosteroids, which are regularly utilized in medicine. It is imperative that patients be educated on the side effects of steroids.

A rare case of DRESS (Drug Reaction With Eosinophilia And Systemic Symptoms) with important involvement of heart, liver, central nervous system and bone marrow

A 46 year old woman from Sri Lanka, underwent blood examination after her return to Italy and found high titers of uric acid (8.2 mg/dl), thus her family physician prescribed allopurinol 300 mg once daily. After 3 weeks she presented to the ER with fever and esantematic rash on the thorax and limbs, therefore allopurinol was stopped and began prednisone 25 mg/day. A week later she returned to the ER for a worsening of the cutaneous eruption, high fever and marked weakness. The admitting physician excluded an adverse drug reaction and was admitted to the Infectious diseases ward with altered liver function tests, high inflammation indices and eosinophilia. All the tests for infectious disease workup resulted negative, but her general condition worsened with high fever, anasarcatic status and neurological weakness. The total body CT scan showed lung and abdominal lymphadenopathy and pleural effusion. The bone marrow biopsy excluded a lympho myeloproliferative disorder and revealed two microgranulomas and 34% eosinophils. The hepatic biopsy showed a diffuse acute hepatitis with marked infiltrate of T-lymphocytes (CD3+) and eosinophils. Cardiac examination with EKG and echocardiography was normal but the cardiac MNR dimostrated a severe pericardial inflammation with effusion. Only when the eosinophilic blood concentration raised to 52% the diagnosis of DRESS was made. The patient also resulted positive for HLA-B*58:01. She began treatment with high glucocorticoid i.v. (1 mg/kg/day) and obtained rapid improvement of the general condition of weakness, skin healing by desquamation and normalization of eosinophilia and hepatic function. She was discharged after one month of hospital stay. Conclusion This is a particular case of DRESS with extensive histological, blood, and radiological examination. It is important to employ elevated levels of glucocorticoids in the treatment of DRESS. The normal cardiac screening by EKG and echocardiography may sometimes prove inadequate for identifying real cardiac injury. We believe that it’s important to undergo cardiac MR imaging since appropriate therapy may prevent progression of cardiac disease.

SP0030 An Update on the Treatment and Assessment of Patients with Inflammatory Myopathy

The idiopathic inflammatory myopathies are rare disorders with significant heterogeneity in their clinical phenotypes. Therapy with glucocorticoids (GC) is generally initiated with prednisone at a dose of 1 mg/kg per...

Antiandrogen flutamide protects male mice from androgen-dependent toxicity in three models of spinal bulbar muscular atrophy.

Spinal and bulbar muscular atrophy (SBMA) is a late-onset, progressive neurodegenerative disease linked to a polyglutamine (polyQ) expansion in the androgen receptor (AR). Men affected by SBMA show marked muscle weakness and atrophy, typically emerging midlife. Given the androgen-dependent nature of this disease, one might expect AR antagonists to have therapeutic value for treating SBMA. However, current work from animal models suggests otherwise, raising questions about whether polyQ-expanded AR exerts androgen-dependent toxicity through mechanisms distinct from normal AR function. In this study, we asked whether the nonsteroidal AR antagonist flutamide, delivered via a time-release pellet, could reverse or prevent androgen-dependent AR toxicity in three different mouse models of SBMA: the AR97Q transgenic (Tg) model, a knock-in (KI) model, and a myogenic Tg model. We find that flutamide protects mice from androgen-dependent AR toxicity in all three SBMA models, preventing or reversing motor dysfunction in the Tg models and significantly extending the life span in KI males. Given that flutamide effectively protects against androgen-dependent disease in three different mouse models of SBMA, our data are proof of principle that AR antagonists have therapeutic potential for treating SBMA in humans and support the notion that toxicity caused by polyQ-expanded AR uses at least some of the same mechanisms as normal AR before diverging to produce disease and muscle atrophy.

Diabetic lumbosacral radiculoplexus neuropathy in an older patient

A 79-year-old man with type-2 diabetes, treated with metformin, presented with significant weight loss and marked pain and weakness in the left thigh persisting for 3 months, thus, requiring him to use a cane. The pain arose from his lower back and radiated into the anterior thigh. The left lower limb showed patellar areflexia and weakness in the psoas, quadriceps, and buttocks muscles. Significant left quadricipital amyotrophy was identified (Fig. 1A). Sensitivity was preserved. Neurological examination of the other limbs was normal. Cranial nerves were intact. HbA1c was 10.1%; other laboratory findings were unremarkable. Antibodies to extractible nuclear antigens, rheumatoid factor, and Lyme serology were negative. Magnetic resonance imaging of the lumbosacral plexus was normal, showing no compressive mass, and that of the thoracolumbar spine was reassuring. Computed tomography of the thigh confirmed reduced muscle trophicity (Fig. 1B). Electromyography showed peripheral denervation from L1–L4, with reduced recruitment in the left thigh myotomas without abnormal rest activity. Cerebrospinal fluid showed an increased protein rate of 0.86 g/L (nL < 0.45), without nucleated cells. The poorly-controlled diabetes, electromyographic results, absence of nerve root compressive signs, and lumbar puncture results led to a diagnostic assumption of diabetic lumbosacral radiculoplexus neuropathy (DLSRPN). Oral methylprednisolone 64 mg/day, with reduced-dose regimen, was started, and insulin therapy replaced the metformin. Improvement was noted within days, with marked reduction in disability. Follow-up confirmed this finding and the amyotrophy

Clinical definition of sarcopenia

Sarcopenia is a condition characterized by loss of skeletal muscle mass and function. Although it is primarily a disease of the elderly, its development may be associated with conditions that are not exclusively seen in older persons. Sarcopenia is a syndrome characterized by progressive and generalized loss of skeletal muscle mass and strength and it is strictly correlated with physical disability, poor quality of life and death. Risk factors for sarcopenia include age, gender and level of physical activity. In conditions such as malignancy, rheumatoid arthritis and aging, lean body mass is lost while fat mass may be preserved or even increased. The loss in muscle mass may be associated with increased body fat so that despite normal weight there is marked weakness, this is a condition called sarcopenic obesity. There is an important correlation between inactivity and losses of muscle mass and strength, this suggests that physical activity should be a protective factor for the prevention but also the management of sarcopenia. Furthermore one of the first step to be taken for a person with sarcopenia or clinical frailty is to ensure that the sarcopenic patient is receiving correct and sufficient nutrition. Sarcopenia has a greater effect on survival. It should be important to prevent or postpone as much as possible the onset of this condition, to enhance survival and to reduce the demand for long-term care. Interventions for sarcopenia need to be developed with most attention on exercise and nutritional interventions.

Hoffmann syndrome: a case report

Hoffmann syndrome is a rare form of hypothyroid myopathy in adults characterized by presence of muscle weakness, stiffness and pseudohypertrophy. We report a 39 year old male with primary hypothyroidism diagnosed at childhood and not on regular thyroxine therapy who presented with fatigue, cold intolerance, constipation, exertional breathlessness, progressive proximal muscle weakness and swelling of the legs for one year. Examination revealed pseudohypertrophy of calf muscles with marked symmetrical proximal upper and lower limb weakness. His TSH and Creatine phosphokinase (CPK) levels were significantly elevated and electromyography (EMG) was compatible with myopathic disorder. After institution of thyroxine therapy his weakness improved markedly and pseudohypertrophy regressed in two months. We report this case because of its rarity.

Spinal Epidural Abscess: When a Fast Diagnosis Is Necessary

A 61 years old man with fatty liver disease and history of recent urinary infection was admitted to the Department of Internal Medicine for severe back pain and fever. The blood culture exams were positive for methicillin-resistant Staphylococcus aureus and later the cervical spine MRI showed an anterior epidural abscess associated with medullary compression. The patient was kept under antibiotic therapy and a decompressive surgery was required. Spinal epidural abscess presentation can be subtle with its presenting complaints ranging in severity from nonspecific back pain to marked weakness. This case report highlights the importance of an early diagnosis in order to avoid a devastating outcome.

A pain in the arms

Dr Catalano: In October 2011, a 73-year-old shoemaker was admitted to the chest pain unit of a provincial hospital for atypical chest pain that arose a few hours earlier. He had a history of ischemic heart disease, and had an acute myocardial infarction at the age of 65, and had a subsequent coronary artery bypass graft. He also had peripheral edema and with bilateral upper limb functional weakness and progressively more severe myalgia. These other symptoms had arisen about 2 weeks prior, and with growing intensity. Blood tests excluded an acute coronary syndrome (troponin negative), but showed the presence of an elevated serum creatinine phosphokinase (CPK). During hospitalization in the chest pain unit, the patient also underwent an echocardiographic examination, which showed the presence of moderate heart disease. A few days later, the patient was transferred to our unit because of worsening bilateral edema and myalgia of the upper limbs. There was no family history of muscular disorders, but only hypertension and diabetes mellitus (DM). He reported that at the age of 53 years, a monoclonal gammopathy had been diagnosed, and 1 year later arterial hypertension. He had been under treatment for several years with betablockers, acetyl salicylic acid, antihypertensives, nitrates, proton pump inhibitors as well as simvastatin (20 mg/day), but had never shown clinical or biochemical findings of muscle toxicity. On visual examination, the patient was afebrile but the arms, especially the forearms, were red and swollen with diffuse bilateral hard edema and marked weakness. The blood pressure was 120/80 mmHg, heart rate 80 beats/min., and no other physical signs were present. Dr Cecere: We carried out blood tests that were normal except for a CPK 2504 U/L (nv: 21–232), lactic dehydrogenase (LDH) 305 U/L (vn: 100–190), creatine kinase MB (CK-MB) 5.1 U/L (nv up to 3.6), myoglobin 707 ng/ml (vn: 16–96), erythrocyte sedimentation rate 33 mm/h (vn: 1–10), fibrinogen 745 mg/dl (170–410), serum glutamic oxaloacetic transaminase 210 U/L (vn: 15–37), serum glutamic pyruvic transaminase 84 U/L (nv 12–78), hemoglobin 11.3 g/dl (nv 12–15). Urinalysis showed moderate hemoglobin concentration with no sign of red blood cells on microscopic examination. This was hypothesized to be due to the presence of myoglobinuria.

Inclusion‐body myositis presenting with facial diplegia

The hallmark clinical presentation of inclusion-body myositis (IBM) is slowly progressive weakness that characteristically affects the quadriceps and finger and wrist finger flexor muscles. Facial weakness can also occur, but it is typically mild and not a prominent finding. We describe the clinical features, laboratory investigations, and muscle biopsy findings in a 58-year old man who presented with a 6-year history of marked progressive symmetrical facial weakness. Examination also showed shoulder abduction and hip extensor weakness. The patient's serum creatine kinase level was 655 U/L, and electromyography showed fibrillation potentials and myopathic motor unit potentials. A biopsy specimen of the left biceps muscle was pathognomonic for IBM. This patient did not have a typical presentation for IBM but rather fulfilled the pathological criteria for IBM. To our knowledge, facial diplegia has not been reported previously as a presenting manifestation of IBM.

WHEN YOUR HEART IS AFLUTTER AND YOU'RE WEAK AT THE KNEES: A CASE REPORT

A 49 year old gentleman presented to Neurology with a 10 year history of deteriorating mobility. He described an evolving bilateral foot drop from his mid–thirties, with progressive symptoms affecting...

An unusual primary manifestation of systemic lupus erythematous in a Nepalese patient: The influence of epidemiological history

Abrupt and life-threatening presentations of multisystemic inflammatory diseases are rarely reported. A 31 year old Nepalese male patient, Buddhist, in Portugal since 2011, presented to the Emergency Department (ED) in September 2012 with fifteen days history of malar rash. He had been treated with an unknown drug 2 weeks ago. One week later, fever, diarrhea, sore throat, cough, chest pain, nonspecific abdominal pain, asthenia, marked muscle weakness, oral ulcers and unquantified weight loss appeared. Previously healthy. On examination, prostrate, afebrile; eupneic, BP: 102/70 mm Hg, HR: 99 bpm; vesicular, labial and gengival ulcers, eyelid and periorbital edema, malar rash with hyperpigmented and purpuric lesions, generalized exanthema also with hyperpigmented and purpuric macular lesions (affecting palms, trunk, extremities); left ear lobe lesion (erythematous base, slightly scaly and hyperpigmented); oropharynx with hyperaemia; normal heart sounds; crackles on the right low lung; painful abdomen, hepatomegaly and cervical ganglia were present. The laboratory exams revealed hemoglobin 12.9 g/dL, APTT 40.5 s (28), ferritin 1558 mg/dl, BUN 20 mg/dl, creatinine 1.39 mg/dl, proteins 5.1 mg/dl, albumin 2.1 mg/dl, AST 73 U/l, LDH 490 U/l, CK 337 U/l, myoglobin 334 ng/ml, VS 25 mm/1st hour. Ceftriaxone and azithromycin were empirically prescribed and switched to doxycycline (on day 10) because of persistent fever and progression of generalized rash. The remaining exams showed: proteinuria 7956 g/24 h, active urinary sediment, hypocomplementemia; chest X-ray and computed tomography angiography with bilateral pleural effusion, normal echocardiography; absence of leukocytes in feces; microbiological cultures (blood, urine, feces), serological research of Legionella, Streptococcus pneumoniae, Toxoplasma gondii, Rubella, HSV1/HSV2, CMV, Syphilis screening (CLIA), Chlamydia trachomatis, Mycoplasma pneumoniae, Chlamydophila pneumoniae, Coxiella burnetii, Brucella (Rose Bengal) Borrelia burgdorferi, Leishmania, HIV1, 2, HBV and HCV, B19 Parvovirus and HH6 negative. Legionella 1/1000, Rickettsia conorii 1/80. Mantoux test anergic. ANA homogeneous pattern + + + +, anti-dsDNA Ab > 50; anti-dnDNA Ab, antiSSA60/SSB/Sm/RNP/ScL 70 Abs positives; myelogram without Leishmania's presence. The renal biopsy revealed diffuse proliferative lupus glomerulonephritis (LGN) with sclerosis lesions and extensive crescent formations (stage IV). This biopsy was traumatic with a consequent retroperitoneal hematoma with 15.7 cm in greatest axial axis submitted to catheterization. After SLE (systemic lupus erythematous) diagnosis was made, with bad prognostic factors, hydroxychloroquine and induction's therapy with methylprednisolone and cyclophosphamide (NIH protocol) was performed, in addition to atorvastatin, enalapril and furosemide, with an excellent clinical evolution. SLE can be a difficult to diagnose when severe forms are its first manifestation. Epidemiological history and the severity of presentation are extremely important on the differential diagnosis process (infection exclusion, the most), otherwise, the early recognition of SLE and specific management could change the course of the disease. When SLE first manifestations are severe, rapid diagnosis is important. In the case of a fever of unknown origin in a subject from a distant country, clinical suspicion and exclusion of infections caused by less frequent microorganisms in our geographical context are fundamental.

Electrical Stimulation for Reducing Trapezius Muscle Dysfunction in Cancer Patients: Traditional Treatment Protocols Also Work

RE: Baldwin ERL, Baldwin TD, Lancaster JS, et al. Neuromuscular electrical stimulation and exercise for reducing trapezius muscle dysfunction in survivors of head and neck cancer: A case-series report. Physiother Can. 2012;64:317–24. http://dx.doi.org/10.3138/ptc.2011-23O Dear Editor, We read Baldwin and colleagues' report1 in the summer 2012 issue of Physiotherapy Canada with great interest. The topic they raise is of particular interest to us, as we recently treated a patient with oral cancer. Following his neck-dissection surgery, the patient developed a neuropathy of the XIth cranial nerve, with paralysis of the trapezius and sternocleidomastoid muscles. The encouraging results obtained by Baldwin and colleagues led us to try electrical stimulation to promote strength gain in the trapezius muscle and to foster recovery. Unfortunately, the advanced technology used by the authors (allowing, for instance, electrical stimulation to be triggered by electromyographic feedback) was not available at our clinic. Although the technology used by Baldwin and colleagues was interesting, we believed that similar effects could be achieved even without such a feedback system. We therefore started a 6-week treatment programme that included electrical stimulation (ES) and therapeutic exercises (ergocycle, active range of motion [AROM], strengthening). The ES component used a Gymna apparatus designed to stimulate denervated muscles (galvanic current, 1 ms pulse width). The patient came to the clinic three times per week for 6 weeks. The treatment sessions always began with a warm-up period consisting of ergocycle pedaling with moderate resistance for 5 minutes. The patient then completed an exercise routine with the assistance of ES. Specifically, the patient was asked to actively flex both shoulders at the onset of ES and to maintain the contraction as long as he felt the electric current in his dorsal (trapezius) area. The electrodes were positioned on the affected right lower trapezius muscle, based on our physical examination,2 during which we observed marked weakness of the inferior portion of the trapezius. We began with 2 sets of 10 repetitions, then gradually progressed to 3 sets of 12 repetitions at the end of week 2. ES duration was initially set at 5 seconds, progressing to 10 seconds (ON:OFF ratio=1:3). As Table 1 shows, the strength of the affected trapezius significantly improved after treatment. This improvement was associated with increased AROM and, presumably, increased shoulder function. The most important change in muscle strength was observed in the lower trapezius, consistent with our electrode placement. Table 1 Active shoulder range of motion (ROM) and shoulder strength before and after treatment* The treatment protocol used significantly improved the strength of the patient's middle and lower trapezius muscle. We cannot exclude the possibility that the treatment also had beneficial effects on the upper portion of the trapezius. However, because we were unable to break the muscle contraction during our evaluation, we cannot fully appreciate its effect on upper trapezius strength. The absence of upper trapezius weakness at initial evaluation surely raises important questions. Given the patient's history and the structure probably affected by the surgery (the spinal accessory nerve), we would have expected weakness in the whole trapezius muscle. We believe that the strength measured during shoulder shrug might in fact be due to compensation by the levator scapulae muscle. Perhaps a more specific evaluation technique (i.e., with slight arm abduction to inhibit the levator scapulae muscle) would have produced a different pattern of results. As mentioned above, the protocol reported here is simple and easy to apply in a standard physiotherapy clinic setting. Unlike Baldwin and colleagues, we used no feedback system to initiate ES of the affected trapezius. We also placed the electrodes on the muscle itself rather than on the spinal accessory nerve, to avoid the negative impact that ES might have on nerve recovery.3,4 In conclusion, our experience suggests that the treatment protocol described in Baldwin and colleagues' research can be modified slightly yet remain effective. Of course, we believe that physiotherapy practice must evolve and take advantage of the technological breakthroughs and new equipment that are emerging in the medical and paramedical field. Nevertheless, those who have access to a more modest array of equipment can still use ES effectively to treat patients with peripheral nerve lesions.

P.3.8 Laing early-onset distal myopathy in a Belgian family

Laing early-onset distal myopathy (MPD1) is a very rare autosomal dominant disorder due to mutations in the MYH7 gene, which encodes the slow beta-myosin heavy chain. Only a few families have been reported from Australia, Austria, Finland, France, Germany, Italy, Moldova, the Netherlands, Norway, and Spain. We report the first family from Belgium. The proposita started limping with the right leg at age 7. At age 14, right hand weakness was noted with difficulty grasping and writing. At age 24, foot drop right > left, right Achilles tendon contracture, and areflexia were noted. At age 54, the patient began to use a wheelchair. There was paralysis of the deltoid, iliopsoas, and finger and foot extensor muscles and marked weakness of neck flexor and other muscles. The proposita’s daughter is an only child. At age 4, weakness of foot extensor muscles and areflexia were noted. At age 15, hand muscle strength began to decrease. At age 25, muscle testing showed severe weakness of the finger, toe, and foot extensor muscles and mild weakness of the neck flexor and proximal muscles. At age 38, the patient is still walks short distances. In both patients, CK and nerve conductions were normal, but EMG showed a BSAPP pattern in distal muscles. Heart and respiration were normal. Several muscle biopsies have been performed in each with diagnoses of aspecific myopathic changes, type 1 fibre predominance, type 1 fibre atrophy, congenital fibre type disproportion, denervation-reinnervation. For decades, a diagnosis of distal SMA has been entertained based on the muscle pathology. Analysis of MYH7 revealed a c.4522_4524del mutation (p.Glu1508del). As there is no family history, this appears to be a de novo mutation, which has been reported in a French and a Norwegian family and in a sporadic Finnish patient.

Merosin-deficient congenital muscular dystrophy type 1A: A case report

The aim of this study was to characterize the clinical and genetic features of a 4-year-old female with merosin-deficient congenital muscular dystrophy type 1A (MDC1A). MDC1A is the most common form of congenital muscular dystrophy. MDC1A is caused by mutation of the laminin α-2 gene (LAMA2), localized to chromosome 6q22–23. Clinical presentation, as well as the results of neuro-imaging, electrophysiology and molecular genetic tests were used to evaluate a patient with MDC1A. The patient exhibited severe hypotonia and marked proximal weakness at 6 months of age, as well as delayed developmental milestones. The serum creatine kinase levels of the patient were elevated at 1,556 IU/l. Magnetic resonance imaging (MRI) showed that the white matter in the frontal, parietal, temporal and occipital lobes was abnormal with low signal intensities on T1-weighted images and high signal intensities on T2-weighted images; however, the cortex was normal. Sequencing of the 65 exons of the LAMA2 revealed a homozygous nonsense mutation in exon 50: a C>T exchange in nucleotide 7147 that resulted in a stop codon (Arg2383X stop). Molecular genetic testing is a reliable method for confirming a diagnosis of MDC1A. When a patient presents with severe congenital hypotonia, muscle weakness, high serum creatine kinase (CK) levels and white matter abnormalities, the evaluation may directly proceed to molecular genetic testing of the LAMA2 gene without performing a muscle biopsy.

WS2-1. A case of slowly progressive muscular atrophy in post hematopoietic stem cell transplantation: Electrophysiological and pathological findings in musculoskeletal chronic graft-versus-host disease (cGVHD)

A 38-year-old man who received bone marrow transplantation four years ago for acute lymphocytic leukemia. He felt muscle cramps and became a bed-bound state because of progressing polyarthralgia in the following year. Marked muscle atrophies, mild weakness, joint contractures, and sclerotic skin changes were noted. Motor conduction studies revealed reduction in the amplitude (2.4 mV), in the conduction velocity (41 m/s), and in the duration (11 ms) of compound muscle action potentials in the right median nerve. In concentric needle electromyography, low amplitude polyphasic motor unit potentials discharged with rapid frequency without spontaneous discharges. Mean muscle fiber CV elicited by monopolar needle electrodes were slow compared with normal control. The electrodiagnosis was myopathic change which consists of cluster of atrophic fibers, discriminated from myositis and motor neuron disease. Muscle specimen from autopsy revealed marked atrophied muscle fibers less than 10 μm in diameter. There were no necrotic and inflammatory processes. In the fascia, small numbers of infiltrating CD8 positive T lymphocytes with proliferation of collagen fibers were seen, compatible with fasciitis. There were few reports about electrophysiological and pathological findings of fasciitis in cGVHD, which must be focused on the future as distinct from the myositis.

Posterior Labral Tear With a Paralabral Cyst Causing Suprascapular Nerve Compression

The patient was a 21-year-old man who was currently enrolled in a military academy. He was seen by a physical therapist in a direct-access capacity for a chief complaint of right shoulder fatigue and discomfort that was present for the past week. Due to marked atrophy and weakness with no history of injury, an orthopaedic surgeon was consulted and diagnostic imaging was requested. Magnetic resonance imaging revealed a posterior labral tear with a large paralabral cyst, likely resulting in significant compression of the suprascapular nerve.

Paraplegia after epidural anaesthesia

A 59-year-old woman presented with 6-week history of recurrent haematuria. Her medical history was unremarkable apart from a 22-pack-year smoking history and hypothyroidism. There was no history of alcohol or...