scholarly journals Expanding the Phenotypic Spectrum of ECEL1-Associated Distal Arthrogryposis

Children ◽  
2021 ◽  
Vol 8 (10) ◽  
pp. 909
Author(s):  
Akshata Huddar ◽  
Kiran Polavarapu ◽  
Veeramani Preethish-Kumar ◽  
Mainak Bardhan ◽  
Gopikrishnan Unnikrishnan ◽  
...  
Keyword(s):  
Motor Development ◽  
Fatty Infiltration ◽  
Birth Asphyxia ◽  
Lower Limbs ◽  
Mild Intellectual Disability ◽  
Abductor Pollicis Brevis ◽  
Limb Weakness ◽  
Muscle Mri ◽  
Distal Arthrogryposis ◽  
Exon 2

Distal arthrogryposis type 5D (DA5D), a rare autosomal recessive disorder, is caused by mutations in ECEL1. We describe two consanguineous families (three patients) with novel ECEL1 gene mutations detected by next-generation sequencing (NGS). A 12-year-old boy (patient 1) presented with birth asphyxia, motor developmental delay, multiple joint contractures, pes planus, kyphoscoliosis, undescended testis, hypophonic speech with a nasal twang, asymmetric ptosis, facial weakness, absent abductor pollicis brevis, bifacial, and distal lower limb weakness. Muscle MRI revealed asymmetric fatty infiltration of tensor fascia lata, hamstring, lateral compartment of the leg, and gastrocnemius. In addition, 17-year-old monozygotic twins (patients 2 and 3) presented with motor development delay, white hairlock, hypertelorism, tented upper lip, bulbous nose, tongue furrowing, small low set ears, multiple contractures, pes cavus, prominent hyperextensibility at the knee, hypotonia of lower limbs, wasting and weakness of all limbs (distal > proximal), areflexia, and high steppage gait. One had perinatal insult, seizures, mild intellectual disability, unconjugated eye movements, and primary optic atrophy. In the twins, MRI revealed extensive fatty infiltration of the gluteus maximus, quadriceps, hamstrings, and anterior and posterior compartment of the leg. Electrophysiology showed prominent motor axonopathy. NGS revealed rare homozygous missense variants c.602T > C (p.Met201Thr) in patient 1 and c.83C > T (p.Ala28Val) in patients 2 and 3, both localized in exon 2 of ECEL1 gene. Our three cases expand the clinical, imaging, and molecular spectrum of the ECEL1-mutation-related DA5D.

scholarly journals The heart of myofibrillary myopathy

2021 ◽  
Author(s):  
Natália Merten Athayde ◽  
Alzira Alves de Siqueira Carvalho
Keyword(s):  
Protein A ◽  
Cardiac Pacemaker ◽  
Fatty Degeneration ◽  
Lower Limbs ◽  
Clinical Approach ◽  
Limb Weakness ◽  
Muscle Mri ◽  
Morphological Findings ◽  
Neurological Exam ◽  
Determining Factor

Context: Myofibrillar myopathies (MFM) represent a heterogeneous group of disorders of skeletal and cardiac muscle caused by mutations in genes that encode proteins of sarcomere. Diagnosis is a challenge due to clinical and genetic variability. Case report: Woman, 36 years old, presenting stumbles and falls for 3 years evolving with proximal limb weakness. At age 30, she fainted and a cardiac pacemaker was implanted. Non-consanguineous parents. Neurological exam: proximal and distal weakness in lower limbs and distal atrophy; osteotendinous reflexes normal. Bilateral scapula alata. Exams: CPK = 457 U / l; EMG: myopathic pattern. Muscle MRI: diffuse and heterogeneous fatty degeneration, marked in sartorius, gracilis and semitedinous. Panel NGS myopathies: pathogenic variant, c.1175T> C, missense in heterozygosis in desmin gene. CONCLUSION: The diagnosis of MFM is based on the morphological findings of muscle biopsy with the presence of protein aggregates as a determining factor. Currently, genetic testing by NGS has facilitated early diagnosis allowing for a more appropriate clinical approach. The desmin gene was the first one described to be associated with this group of myopathies. It encodes the desmin protein, a member of the intermediate filament family present in cardiac and skeletal muscle. Several phenotypes are related to desmin gene: isolated dilated cardiomyopathy; scapuloperoneal weakness and distoproximal weakness with cardiac alterations. Desminopathy is a rare cause of cardiomyopathy and / or myopathy. The diagnosis should be thought in patient with muscle weakness and cardiac changes.

Viral neuromyopathy associated with acute hepatitis B infection

2022 ◽  
Vol 15 (1) ◽  
pp. e247203
Author(s):  
Boby Varkey Maramattom ◽  
Akheel A Syed
Keyword(s):  
Hepatitis B ◽  
Acute Hepatitis ◽  
Lower Limbs ◽  
Whole Body ◽  
Hepatitis B Infection ◽  
Limb Weakness ◽  
Muscle Mri ◽  
Acute Hepatitis B ◽  
Hepatitis B Viral Infection ◽  
Short Tau Inversion Recovery

Viral myositis is commonly seen with influenza and COVID-19 infections. While it has been described with acute viral hepatitis, concomitant involvement of the peripheral nerves causing a neuromyopathy has not been reported. A 67-year-old man with acute hepatitis B infection developed a severe myalgia and lower limb weakness around 1 month into his illness. Investigations revealed a neuromyopathy and rhabdomyolysis. MRI whole body with short tau inversion recovery sequences showed scattered muscle hyperintensities in the upper and lower limbs. He was treated with intravenous immunoglobulin and improved. This is the first report of an acute neuromyopathy associated with acute hepatitis B viral infection and demonstration of muscle MRI abnormalities in this condition.

scholarly journals SAT0332 ANTIBODIES AGAINST CYTOSOLIC 5’-NUCLEOTIDASE 1A IN SPORADIC INCLUSION BODY MYOSITIS: ASSOCIATION WITH CLINICAL AND MRI FEATURES

2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 1112.1-1112
Author(s):  
R. Dejthevaporn ◽  
S. Shah ◽  
S. Wastling ◽  
J. Thornton ◽  
T. Yousry ◽  
...  
Keyword(s):  
Inclusion Body ◽  
Inclusion Body Myositis ◽  
Rating Scale ◽  
Fatty Infiltration ◽  
Connective Tissue Diseases ◽  
Diagnostic Process ◽  
Antibody Testing ◽  
Muscle Mri ◽  
Mri Features ◽  
Sporadic Inclusion Body Myositis

Background:Autoantibodies directed against cytosolic 5´-nucleotidase 1A (cN1A) have been identified in sporadic inclusion body myositis (sIBM) and other connective tissue diseases. Anti-cN1A antibodies may support the diagnostic process for sIBM as well as potentially provide clues for disease pathogenesis. Nevertheless, the utility of anti-cN1A autoantibody testing in clinical practice remains unclear and requires validation.Objectives:To investigate the association between anti-cN1A antibody status and clinical and MRI features in patients with sIBM.Methods:Data for patients fulfilling European Neuromuscular Centre (ENMC) 2011 criteria for sIBM were obtained from a natural history study database. Demographic, clinical, functional assessment, and muscle MRI data in patients with sIBM who had anti-cN1A autoantibody testing were collected and analysed. Comparisons between subgroups with anti-cN1A antibody status were performed with the Mann-Whitney or Fisher’s exact tests, as appropriate.Results:Forty-nine patients with sIBM had anti-cN1A autoantibody testing, of whom 17 (34.7%) were positive. Twelve patients had muscle MRI performed (seropositivity=5). Demographics, disease duration at antibody testing and overall disease pattern were closely matched in antibody positive and negative cohorts. Dysphagia was more common in the seropositive subgroup (77% vs 47%, p=0.070). Antibody positive patients were more severely affected with a trend to lower IBM functional rating scale (IBMFRS) scores (22.4±8.4 vs 26.7±6.4, p=0.09) with significantly worse ability to climb stairs (0.9±0.9, 1.7±1.1, p=0.02). On T1-weighted MRI more fatty infiltration was found in seropositive patients (Mercuri score: 3.0±0.8 vs 1.7±0.7, p=0.03). Short tau inversion recovery (STIR) hyperintensity was more conspicuous in seropositive patients (STIR extent score: 2.4±0.6 vs 1.4±0.7, p=0.04).Conclusion:There was a trend for more dysphagia and severity of dysphagia in seropositive patients. Differences in upper limb involvement were not seen according to IBMFRS and Medical Research Council (MRC) strength grades. Seropositive patients were more severely affected at the lower limb level, in terms of muscle weakness, physical function, MRI fatty infiltration and muscle inflammation. These results suggest positive antibody status is associated with a worse phenotype. These results have potential implications in clinical trials: whether antibody status influences treatment response should be assessed.Disclosure of Interests:Revadee Dejthevaporn: None declared, Sachit Shah: None declared, Stephen Wastling: None declared, John Thornton: None declared, Tarek Yousry: None declared, Jasper M Morrow: None declared, Pedro M Machado Consultant of: PMM: Abbvie, Celgene, Janssen, Lilly, MSD, Novartis, Pfizer, Roche and UCB, Speakers bureau: PMM: Abbvie, BMS, Lilly, MSD, Novartis, Pfizer, Roche and UCB

Thigh and Leg Muscle MRI Findings in GNE Myopathy

2021 ◽  
pp. 1-8
Author(s):  
Farzad Fatehi ◽  
Soroor Advani ◽  
Ali Asghar Okhovat ◽  
Bentolhoda Ziaadini ◽  
Hosein Shamshiri ◽  
...  
Keyword(s):  
Tibialis Anterior ◽  
Vastus Lateralis ◽  
Fatty Infiltration ◽  
Muscular Dystrophies ◽  
Tibialis Posterior ◽  
Muscle Mri ◽  
Muscle Involvement ◽  
Fat Infiltration ◽  
Gne Myopathy ◽  
Adductor Magnus

Background: Muscle MRI protocols have been developed to assess muscle involvement in a wide variety of muscular dystrophies. Different muscular dystrophies can involve muscle groups in characteristic patterns. These patterns can be identified in muscle MRI in the form of fatty infiltration. Objective: This study was conducted to add the existing knowledge of muscle MRI in GNE myopathy and evaluate the correlation of muscular involvement with different gene mutations. Methods: The MRI scans of the 18 GNE patients were analyzed retrospectively. Cluster analysis was done for grouping the muscles and patients. Results: The four muscles with the highest fat infiltration were adductor magnus, tibialis anterior, semitendinosus, and semimembranosus. Furthermore, three clusters of muscle involvement were found, including cluster 1, typical muscle involvement indicating muscles with the highest infiltration: extensor digitorum longus, gracilis, biceps femoris, soleus, gastrocnemius medial, adductor longus, tibialis anterior, adductor magnus, semimembranosus, semitendinosus; cluster 2, less typical muscle involvement indicating muscles with intermediate fat infiltration, peroneus longus, gastrocnemius lateral, and minimal fat infiltration in most of the patients, i.e., tibialis posterior; and cluster 3, atypical muscle involvement with low-fat infiltration: rectus femoris, sartorius, vastus intermedius, vastus medialis, and vastus lateralis. Conclusions: This study found three clusters of muscle involvement and three groups of patients among GNE patients. Hamstring muscles and the anterior compartment of the lower leg were the muscles with the highest fat infiltration. Moreover, a weak genotype-muscle MRI association was found in which tibialis posterior was more involved in patients with the most frequent mutation, i.e., C.2228T >  C (p.M743T) mutation; however, this finding may be related to longer disease duration.

Abnormal Shoulder Girdle Muscle Tone in Premature Infants During Their First 18 Months of Life

PEDIATRICS ◽  
1986 ◽  
Vol 77 (5) ◽  
pp. 664-669
Author(s):  
Michael K. Georgieff ◽  
Judy C. Bernbaum
Keyword(s):  
Premature Infants ◽  
Motor Development ◽  
Muscle Tone ◽  
Birth Asphyxia ◽  
Shoulder Girdle ◽  
First Year ◽  
First Year Of Life ◽  
Girdle Muscle ◽  
Shoulder Girdle Muscle

To document the incidence of and neonatal factors associated with abnormal shoulder girdle muscle tone in premature infants at follow-up, we studied 125 consecutively admitted infants weighing < 1,750 g treated in The Children's Hospital of Philadelphia intensive care nursery and subsequently seen in the Neonatal Follow-up Program up to 18 months of age. Fifty-seven infants (46%) displayed abnormal shoulder girdle muscle tone which presented clinically as scapular retractions. These infants had significantly lower birth weights (P < .001) and gestational age (P < .001) as well as a higher incidence of acute and chronic pulmonary disease (P < 0.01) and CNS insults (P < .05) when compared with infants without scapular retractions. The 57 infants with scapular retractions were further divided into two groups: 42 infants (74%) in whom scapular retractions were associated with generalized mild hypertonicity and 15 infants (26%) in whom scapular retractions compensated for trunk and neck hypotonicity. The infants with scapular retractions and hypotonicity had a significantly higher incidence of neonatal neurologic morbidity including seizures, major resuscitations, and birth asphyxia (P < .01) when compared with the infants with scapular retractions and hypertonicity. Shoulder girdle tone abnormalities in the first year of life inhibit crawling, sitting, and object manipulation and, therefore, may manifest as delays in motor development. Identification of infants with significant neonatal risk factors for tone abnormalities is important to allow for earlier therapeutic intervention.

scholarly journals Neurologic melioidosis presented as encephalomyelitis and subdural collection in two male labourers in India

2015 ◽  
Vol 9 (11) ◽  
pp. 1289-1293 ◽  
Author(s):  
Kavitha Saravu ◽  
Rajagopal Kadavigere ◽  
Ananthakrishna Barkur Shastry ◽  
Rohit Pai ◽  
Chiranjay Mukhopadhyay
Keyword(s):  
Lower Limb ◽  
Corticosteroid Treatment ◽  
Conus Medullaris ◽  
Subdural Empyema ◽  
Lower Limbs ◽  
High Dose ◽  
Limb Weakness ◽  
Subdural Collection ◽  
Lower Limb Weakness ◽  
Left Lower Limb

Two distinct and potentially deceitful cases of neurologic melioidosis are reported. Case 1: A 39-year-old alcoholic and uncontrolled diabetic male presented with cough, fever, and left focal seizures with secondary generalization. An magnetic resonance imaging (MRI) brain scan revealed a small peripherally enhancing subdural collection along the interhemispheric fissure suggestive of minimal subdural empyema. Blood culture grew Burkholderia pseudomallei. Patient was diagnosed with disseminated bacteraemic melioidosis with subdural empyema. He was successfully treated with ceftazidime-cotrimoxazole-doxycycline. Case 2: A 45-year-old male presented with left lower limb weakness, difficulty in passing urine and stool, and back pain radiating to lower limbs. Neurological examination revealed flaccid left lower limb with absent deep tendon reflexes and plantar reflex. Spinal MRI showed T2 hyperintensity from D9 to L1 suggestive of demyelination. Patient was treated with high dose methylprednisolone. By day 3 of steroid treatment, lower limb weakness progressed. Subsequent MRI showed extensive cord hyperintensity on T2 weighted sequence extending from C5 to conus medullaris consistent with demyelination. Cerebrospinal fluid (CSF) culture grew B. pseudomallei, and the patient was given meropenem-cotrimoxazole. After three weeks of parenteral treatment, the lower limbs remained paralyzed. Patient was discharged on oral cotrimoxazole-doxycycline. Conclusions: Melioidosis should be considered as a differential in focal suppurative central nervous system (CNS) lesions, meningoencephalitis, or encephalomyelitis in endemic areas. CNS infections must be ruled out prior to steroid administration. The role of corticosteroids in demyelinating CNS melioidosis has been refuted. This is a rare documentation of effect of unintentional corticosteroid treatment in melioidosis.

Case Report on Guillain Barre Syndrome: Acute Inflammatory Demyelinating Polyneuropathy

2021 ◽  
Vol 8 (9) ◽  
pp. 548-550
Author(s):  
Chinnu Roy ◽  
Jobin Kunjumon Vilapurathu ◽  
Dhanya Paul
Keyword(s):  
Case Report ◽  
Medical Condition ◽  
Demyelinating Polyneuropathy ◽  
Lower Limbs ◽  
Guillain Barre Syndrome ◽  
Limb Weakness ◽  
Acute Inflammatory Demyelinating Polyneuropathy ◽  
Guillain Barré Syndrome ◽  
Inflammatory Demyelinating Polyneuropathy ◽  
Guillain Barré

Guillain Barre Syndrome (GBS) is an autoimmune disorder which affects the peripheral nervous system. It is a rare disorder affects in 1 per million people in year. It is characterized by symmetrical, progressive limb weakness and tingling. Case Report: A 53 year old male patient was presented with insidious onset of difficulty in moving right upper and lower limbs as well as gradual weakness of left limbs, and breathing difficulty, known case of diabetics’ mellitus and hypertension. Nerve conduction study shows suggest axonopathy; Acute Inflammatory Demyelinating Polyneuropathy (AIDP) is identified, which is a subtype of Guillain Barre Syndrome. Patient gradually develops areflexia, bifacial weakness, and quadriparesis. Patient was treated with IV immunoglobulin and intranasal oxygen therapy. Patient shows slight improvement in his medical condition, shows improvement in the power of lower limbs after one week of therapy. Physiotherapy was suggested. Keywords: Guillain Barre Syndrome, GBS, Acute Inflammatory Demyelinating Polyneuropathy, AIDP.

scholarly journals Sjögren’s syndrome with rapidly progressive motor neuron disease: a case report

2020 ◽  
Vol 48 (11) ◽  
pp. 030006052097446 ◽  
Author(s):  
Huijia Yang ◽  
Xiaozhong Jing ◽  
Jinhua Yan ◽  
Dihui Ma
Keyword(s):  
Motor Neuron ◽  
Motor Neuron Disease ◽  
Sjögren’S Syndrome ◽  
Sjögren's Syndrome ◽  
Sjogren’S Syndrome ◽  
Sjogren's Syndrome ◽  
Lower Limbs ◽  
Weekly Dose ◽  
Limb Weakness ◽  
Sjögren‘S Syndrome

Sjögren’s syndrome is an autoimmune disease that can affect multiple systems. Sjögren’s syndrome with motor neuron disease is rarely reported. Herein, we describe a patient with rapidly progressive motor neuron disease secondary to Sjögren’s syndrome. A 42-year-old woman was admitted to our hospital with a 2-month history of progressive limb weakness. Neurological assessment revealed fasciculation in the lower limbs and amyotrophy in the bilateral supraspinatus, interosseous, and thenar muscles. Serological examination and labial gland biopsy revealed Sjögren’s syndrome. In addition, electromyography demonstrated neurogenic damage to the upper and lower limbs. The patient received a short course of high-dose corticosteroids, intravenous immunoglobulins, and immunosuppressant treatment, including a weekly dose of 0.4 g cyclophosphamide and a daily dose of 0.2 g hydroxychloroquine. However, the patient’s limb weakness was further aggravated and her respiratory function was compromised. Electromyography re-examination demonstrated extensive neurogenic damage, and she was diagnosed with Sjögren’s syndrome with motor neuron disease. The patient died of respiratory failure after 2 months. We suggest that more effective maintenance treatments should be sought. Further investigation is required to elucidate the association between autoimmune motor neuron disease and Sjögren’s syndrome.

scholarly journals Peripheral Nervous System Involvement in Late-Onset Cobalamin C Disease?

2020 ◽  
Vol 11 ◽  
Author(s):  
Xujun Chu ◽  
Lingchao Meng ◽  
Wei Zhang ◽  
Jinjun Luo ◽  
Zhaoxia Wang ◽  
...  
Keyword(s):  
Nervous System ◽  
Peripheral Nervous System ◽  
Methylenetetrahydrofolate Reductase ◽  
Late Onset ◽  
Hot Spot ◽  
Axonal Neuropathy ◽  
Methylmalonic Aciduria ◽  
Lower Limbs ◽  
Compound Heterozygous ◽  
Limb Weakness

Background: Cobalamin C (cblC) has a fundamental role in both central and peripheral nervous system function at any age. Neurologic manifestations may be the earliest and often the only manifestation of hereditary or acquired cblC defect. Peripheral neuropathy remains a classical but underdiagnosed complication of cblC defect, especially in late-onset cblC disease caused by mutations in the methylmalonic aciduria type C and homocysteinemia (MMACHC) gene. So the clinical, electrophysiological, and pathological characteristics of late-onset cblC disease are not well-known.Methods: A retrospective study of patients with late-onset cblC disease was conducted at our hospital on a 3-year period. The neuropathy was confirmed by the nerve conduction study. Sural biopsies were performed in 2 patients.Results: Eight patients were identified, with a mean onset age of 16.25 ± 6.07 years. All patients had methylmalonic aciduria, homocysteinemia, compound heterozygous MMACHC gene mutations were detected in all patients, and 7/8 patients with c.482G>A mutation. One patient concomitant with homozygote c.665C>T mutation in 5,10-methylenetetrahydrofolate reductase (MTHFR) gene. All patients showed limb weakness and cognitive impairment. Five patients had possible sensorimotor axonal polyneuropathy predominantly in the distal lower limbs. Sural biopsies showed loss of myelinated and unmyelinated fibers. Electro microscopy revealed crystalline-like inclusions bodies in Schwann cells and axonal degeneration.Conclusion: Late-onset cblC disease had possible heterogeneous group of distal axonal neuropathy. c.482G>A mutation is a hot spot mutation in late-onset cblC disease.

scholarly journals Dilemma in the Management of Duchenne Muscular Dystrophy in a Resource Limited Settings

2019 ◽  
Vol 38 (2) ◽  
pp. 122-124
Author(s):  
Ahmadu Baba Usman ◽  
Pembi Emmanuel ◽  
Ovansa Emmanuel Onimisi ◽  
Adewale O. Oyinloye ◽  
Apollos Nachanuya ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Genetic Disorder ◽  
Lower Limbs ◽  
Financial Constraint ◽  
Limb Weakness ◽  
Progressive Muscle Weakness ◽  
Resource Limited ◽  
Duchene Muscular Dystrophy ◽  
History Of ◽  
Great Burden

Duchene muscular dystrophy is an x-linked recessive genetic disorder which present with progressive muscle weakness in children. It is often complicated by child becoming wheelchair bound by age 12. This limitation on the child and lack of cure is a great burden on the child, family and the community. We present a case of an 11-year old boy who presented with a seven years history of progressive limb weakness. Examination revealed hyper-lordosis of the thora-columbar spine, hypertrophied calf muscles, weak lower limbs and waddling gait. Due to financial constraint, only histology was relied on for definitive diagnosis. He was counselled, placed on prednisolone and commenced physiotherapy. This case portrays the challenges associated with the management of a rare disease in resource constraint settings.

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