Bilateral Scapular Winging Research Articles

Scapular Winging In Patients With Anti-Hydroxy Methyl Glutaryl CoA Reductase (HMGCR) Antibody Positive Immune Mediated Necrotizing Myopathy (IMNM): A Case Series (P9-8.005)

<h3>Objective:</h3> To report examination finding of scapular winging in two patients with Anti-hydroxymethylglutaryl CoA reductase (HMGCR) antibody positive immune mediated necrotizing myopathy (IMNM). <h3>Background:</h3> IMNM is a disabling auto-immune myopathy characterized by severe proximal muscle weakness, markedly elevated creatine kinase (CK) and muscle necrosis. Diagnosis is made via muscle biopsy and antibody testing in a patient with a suggestive history, examination and laboratory abnormalities. <h3>Design/Methods:</h3> Case Series <h3>Results:</h3> Patient 1, a 46 year old male presented for evaluation of muscular dystrophy. He had proximal lower extremity muscle weakness, dysphagia and 20 lbs weight loss over 1 year duration. He was on statin in the past which was discontinued after he was found to have elevated liver enzymes. Examination was notable for mild eye closure weakness, bilateral scapular winging, leg &gt; arm, proximal &gt; distal weakness and abdominal weakness. CK was elevated to 12, 000 u/L. HMCCoA Ab was positive with elevated titer to 435.8. He was started on methotrexate and IVIG Q2 weeks. CK level down trended to 2652 U/L. Patient had significant improvement in his symptoms. Patient 2, a 58 year-old male presented with proximal upper and lower extremity muscle weakness, dysphagia and 10 lbs weight loss of over 4 month duration. He was on atorvastatin for over 3 years which was discontinued 1 month after symptom onset. Examination was notable for proximal muscle weakness in bilateral upper and lower extremities, right scapular winging and neck flexion weakness. CK was elevated to 7500. HMG COA reductase antibody was positive with elevated titer to 169.4. He was started on methotrexate and IVIG Q2 weeks. He also noted improvement in his symptoms. <h3>Conclusions:</h3> Scapular winging can be seen with HMGCR Ab+ IMNM. Such patients can be misdiagnosed having muscular dystrophy. Neurologists should be aware of this clinical phenotype as these patients may respond favorably to immunotherapy. <b>Disclosure:</b> Dr. Katyal has nothing to disclose. Dr. Goyal has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Argenx. Dr. Goyal has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for UCB. An immediate family member of Dr. Goyal has received personal compensation in the range of $10,000-$49,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Argenx. Dr. Goyal has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Alexion.

Neuromuscular ultrasound for evaluation of scapular winging.

Clinicians who treat nerve and muscle disorders may be asked to evaluate patients who have unilateral or bilateral scapular winging. Traditionally, this evaluation has relied upon a thorough history, physical examination, and electrodiagnostic testing to localize the cause of winging and detect the underlying neuromuscular pathology. Neuromuscular ultrasound has emerged as a non-invasive technique that can be used for structural evaluation of nerve and muscle abnormalities. Previous studies of imaging in scapular winging and experiences from our diagnostic laboratory are reviewed. Four standard and 4 ancillary ultrasound views are described for evaluation of scapular winging. Ultrasound is a non-invasive, painless, and radiation-free technology that can be used to evaluate scapular winging. Muscle Nerve 56: 7-14, 2017.

Average age at diagnosis for Sanfilippo syndrome: A case for newborn screening

CO RR EC TE D P RO OF patients we have contacted thus far, 7 patients have had a GAA enzyme assay performed. One of the 7 has been found to have a GAA enzyme level in the affected range for Pompe of less than 3.88 pmol. Sequencing of GAA is pending. His features include limb girdle muscle weakness, bilateral scapular winging, Gower maneuver, and respiratory insufficiency. His muscle weakness began approximately twenty years ago. The remainder of our results will be presented at WORLD. We are optimistic that our data will support that LOPD is a missed diagnosis and testing GAA enzyme activity should be considered for patients presenting with proximal muscle weakness, respiratory insufficiency, and inconclusive muscle biopsy findings. 1 Al-Lozi MI, Amato AA, Barohn R, et al., Diagnostic criteria for late-onset (childhood and adult) Pompe disease. Muscle & nerve. 2009 Jul;40(1):149–60. 2 Vissing J, Lukacs Z, Straub V. Diagnosis of Pompe disease: muscle biopsy vs blood-based assays. JAMA Neurology. 2013 Jul;70(7):923–7.

G.P.275: Expanding the clinical and genetic spectrum of FKRP-related myopathies in Argentinean pediatric patients

Mutations in the FKRP gene account for a broad spectrum of patients ranging from CMD to the much milder LGMD2I. We describe the first 3 children with FKRP muscular dystrophy from Argentina. In all of them muscular dystrophy with deficit of alpha-dystroglycan was observed on muscle biopsy. Case 1: An 18-month-old boy with a history of poor sucking at birth, respiratory difficulties, delayed milestones, microcephaly, proximal weakness, and calf hypertrophy. CPK: 5100 IU/l. Normal brain MRI. Molecular studies: homozygous mutation c.946C>Gp.Pro318Ala. He was able to walk independently at 3 years of age. At 5 years old he was started on nocturnal non-invasive ventilation. Case 2: A 9-year-old girl with progressive weakness and hypotonia, generalized, mainly proximal and lower-limb weakness, a waddling, tiptoe gait, bilateral scapular winging, and difficulty getting up from the floor, running, and jumping. CPK: 15920 IU/l. Molecular studies: 3 heterozygous variants were identified: C.826C>A p.Leu276Ile, C.946C>G p.Pro316Ala, c.970G>C p.Glu324Gln. She is currently 10 years old and stable. Cardiological and respiratory studies are normal. Case 3: An 11-year-old boy with difficulty running since 5 years of age, calf pain, and fatigue. He had proximal muscle weakness, mainly in the lower limbs, marked calf hypertrophy, and a waddling gait. CPK: 8737 IU/l. Molecular studies: 3 heterozygous variants were identified: C.545A>G p.Tyr182Cys, C.946C>Gp.Pro316Ala, c.970G>C p.Glu324Gln. The mother showed the heterozygous variant C.545A>G p.Tyr182Cys. He is currently 13 years old, shows a waddling, tiptoe gait, difficulty climbing stairs, running, and jumping. There is no evidence of cardiomyopathy. Conclusion: Case 1 presented as a CMD while the other two mainly have a LGMD2I phenotype. The last two cases presented with two identical, not previously reported variants.

DILATIVE VASCULOPATHY AND CEREBRAL HAEMORRHAGE AS A PRESENTATION OF LATE–ONSET POMPE DISEASE

A 51 year old gentleman who had experienced a spontaneous intracerebral haemorrhage was referred for a neurological opinion when the anaesthetists experienced difficulty weaning him from the ventilator on the...

Subacute brachial diplegia associated with west nile virus myelitis

Brachial diplegia is a clinical term used to describe weakness restricted to the upper extremities. We report a case of brachial diplegia associated with West Nile virus infection. A 48-year-old man developed severe painless bilateral upper extremity weakness within a few weeks of a flu-like illness. Clinical examination revealed marked periscapular, shoulder girdle, and humeral muscle atrophy and bilateral scapular winging, with near symmetrical bilateral hypotonic upper extremity weakness. This was associated with clinical signs of an encephalomyelopathy without cognitive or sensory deficits. Electrophysiological studies demonstrated a subacute disorder of motor neurons, their axons or both, involving the cervical and thoracic myotomes, with ongoing denervation. Serological studies confirmed recent West Nile virus (WNV) infection. Gradual improvement occurred following conservative supportive therapies. Progressive brachial diplegia is a rare neuromuscular presentation of WNV neuroinvasive disease. This case report adds to the clinical spectrum of WNV-induced neurologic sequelae.

A case of late-onset proximal and distal muscle weakness

At initial presentation, our patient was a 49-year-old woman with 3 years of progressive weakness. She noted difficulty standing up straight and climbing stairs. Over the next 2 years, she had “winging” of her shoulder blades and difficulty lifting her arms over her head. She denied fatigue, fasciculations, myalgias, cramps or stiffness, ptosis, double vision, difficulty chewing or swallowing, dysarthria, dyspnea, sensory symptoms, incontinence, rash, arthralgias, and bone pain. The patient’s mother developed difficulty walking in her late 50s, with “flapping of her feet,” winging of the scapulae, dysphagia, and dysarthria. A maternal uncle also used a wheelchair in mid-adult life, and the patient’s maternal grandmother was diagnosed with Roussy-Levy syndrome. The patient has one 48-year-old brother and 6 adult children without medical problems. Her family history and medical history were otherwise unremarkable. She was taking no medications. General examination was unremarkable. Mental status was normal. Cranial nerves were intact. Motor examination revealed bilateral scapular winging and paraspinal muscle atrophy. No fasciculations, myotonia, or paramyotonia were appreciated. Manual muscle testing demonstrated Medical Research Council (MRC) grades of 4 proximally and 4+ distally in the arms and legs. Sensation and muscle stretch reflexes were intact. Plantar responses were flexor. The patient had a hyperlordotic, wide-based, and waddling gait. The patient’s weakness progressed over the next several years. At the age of 54 years, she had the following MRC scores: neck flexion 5−, neck extension 5−, shoulder abduction 3−, elbow flexion 4 on the right and 2 on the left, elbow extension 5, wrist extension 4+ on the right and 4 on the left, wrist flexion 5, finger extension 4+, and finger flexors 5. In the lower extremities, she had hip flexion, abduction, and extension 2, knee extension 3−, ankle dorsiflexion and plantar flexion 1 on right and 4− on left. Workup …