Motor neuropathy
Multifocal motor neuropathy: a review of pathogenesis, diagnosis, and treatment
... Multifocal motor neuropathy (MMN) is an uncommon, purely motor neuropathy associated with asymmetric deficits with predilection for upper limb ...as motor neuron ...electrodiagnosis, ...
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Multifocal motor neuropathy presenting as a post infectious complication of dengue: a CASE report
... Background: Dengue infection is an endemic illness in the tropics and it is associated with a wide variety of post infectious complications. With the increasing prevalence of dengue infection in endemic regions, ...
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Multifocal demyelinating motor neuropathy and hamartoma syndrome associated with a de novo PTEN mutation
... The predominant clinical presentation of the patient was a childhood onset, asymmetric pro- gressive multifocal motor neuropathy. In addition, he presented with macrocephaly, autism spectrum disorder, and ...
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Identification of a new SYT2 variant validates an unusual distal motor neuropathy phenotype
... Gain-of-function mutations in SYT2 have been recently associ- ated with an autosomal dominant presynaptic congenital my- asthenic syndrome in 2 families. SYT2 is an integral membrane protein of synaptic vesicles and ...
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Homozygous mutation in HSPB1 causing distal vacuolar myopathy and motor neuropathy
... neurophysiologic studies performed at age 57 follow- ing progressive limb weakness revealed an axonal motor neuropathy. Although chronic end-stage myopathy may have neurophysiologic features that can appear ...
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Human immune globulin infusion in the management of multifocal motor neuropathy
... Abstract: Multifocal motor neuropathy (MMN) is a debilitating and rare disease causing profound weakness with minimal to no sensory symptoms. Conduction block is frequently seen on electrodiagnostic ...
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Motor neuropathy in porphobilinogen deaminase–deficient mice imitates the peripheral neuropathy of human acute porphyria
... measures motor coordination and proprioceptive sensitiv- ...the motor coor- dination was studied on an inclined plane, where the angle at which mice can no longer remain on the plane is ...
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High‐dose intravenous immunoglobulin therapy in multifocal motor neuropathy
... Clinical improvement in these patients was associated with a reduction of conduction block in most, but not all, motor nerves, while antibody titers were not consistently modified[r] ...
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... sensory neuropathy Grade 2, presence of motor neuropathy, presence of deformity, IDSA infection Grade IV, past H/O amputation, ulcer depth Grade IV, HbA1c ...sensory neuropathy and IDSA ...
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Autonomic Dysfunction in Iraqi Patients with Chronic Inflammatory Demyelinating Polyneuropathy
... Multifocal motor neuropathy is characterized by asymmetric weakness without sensory loss, often starting in distal arm ...partial motor-conduction block at multiple sites is a characteristic ...
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“Fork and bracket” syndrome expands the spectrum of SBF1-related sensory motor polyneuropathies
... demyelinating neuropathy with focally folded myelin sheaths, both families presented a predom- inantly axonal sensory motor neuropathy with evidence of denervation, markedly reduced amplitude of ...
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New family with HSPB8-associated autosomal dominant rimmed vacuolar myopathy
... HSPB8 is part of the chaperone-assisted selective autophagy (CASA) complex previously associated with CMT type 2L 10,11 and distal hereditary motor neuropathy type IIa. 12 Only recently has the new ...
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SIGMAR1 mutation associated with autosomal recessive Silver-like syndrome
... hereditary motor neuropathy; dHMN-J 5 distal hereditary motor neuropathy and pyramidal features identified in the Jerash region of Jordan; ER 5 endoplasmic reticulum; ExAC 5 Exome Aggregation ...
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Clinical Reasoning: A 34-year-old man with recurrent limb weakness
... Since this patient’s symptoms are limited to the arms, MMN or LSS are high on the differential diag- nosis. LSS is also referred to as multifocal acquired demyelinating sensory and motor neuropathy. It is a ...
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Phenotypic and molecular insights into Spinal Muscular Atrophy due to mutations in BICD2
... Mutations in TRPV4 have also been identified in a large kindred with typical spinal muscular atrophy, lower ex- tremity predominant features (Fleury and Hageman, 1985; Auer-Grumbach et al., 2010), and in a small number of ...
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A Child Hereditary Motor Sensory Neuropathy and Mutation of Heat Shock Protein HSPB1
... Heat Shock protein beta-1 is a ubiquitously expressed, multifunctional protein chaperone. Mutations in HSPB1 result in the development of a late onset, hereditary motor neuropathy type II (HMN) and axonal ...
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Correlation of microalbuminuria with neuropathy in type-II diabetes mellitus patients
... of neuropathy observed in this study was distal symmetrical sensory motor neuropathy which comprised of 52% of the total 56 patients who presented with peripheral ...sensory neuropathy, ...
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Comparison of electrophysiological findings in axonal and demyelinating Guillain-Barre syndrome.
... inexcitable motor nerve in both early and late groups was peroneal nerve with the same frequency of 20% (Table ...than motor nerves, especially when NCS was performed ...
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An Overview on Guillain Barre Syndrome
... acute motor axonal neuropathy, 43 ...the neuropathy is ...acute motor and sensory axonal neuropathy supports antibody mediated damage to the axon, as does a rabbit model of acute ...
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Anti ganglioside Antibody profile in GBS - Clinical, Immunological and Neurophysiological significance.
... Guillain-Barré syndrome (GBS) was initially described in detail in 1859, by Jean Baptiste Landry, a French physician. However, Guillain, Barré, and Strohl gave the first widespread description, including clinical ...
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