Peripheral neuropathy, episodic myoglobinuria, and respiratory failure in deficiency of the mitochondrial trifunctional protein.

Abstract:

:Mitochondrial trifunctional protein (TFP) deficiency is a rare disorder of the fatty acid beta-oxidation cycle with heterogeneous phenotypes and occurs secondary to either alpha- or beta-subunit mutations. We characterized the neuromyopathic phenotype of TFP deficiency through adolescence or adulthood in 11 patients, 8 with beta-subunit mutations and 3 with alpha-subunit mutations. Two independent clinical features occurred: infantile-onset progressive peripheral neuropathy and episodic exercise-, illness- or fasting-induced rhabdomyolysis accompanied by respiratory failure (in five patients). The combination of episodic rhabdomyolysis and peripheral neuropathy occurred in 10 of the 11 patients. The neuromyopathic phenotype is common in TFP deficiency (11 of 27 families from our cohort). Therefore, this disorder must be considered in the differential diagnosis of progressive peripheral neuropathy with or without episodic myoglobinuria.

journal_name

Muscle Nerve

journal_title

Muscle & nerve

authors

Spiekerkoetter U,Bennett MJ,Ben-Zeev B,Strauss AW,Tein I

doi

10.1002/mus.10500

subject

Has Abstract

pub_date

2004-01-01 00:00:00

pages

66-72

issue

1

eissn

0148-639X

issn

1097-4598

journal_volume

29

pub_type

杂志文章
  • Clinical utility of reflex studies in assessing cervical radiculopathy.

    abstract::We prospectively studied the diagnostic utility of upper limb segmental reflexes in patients with suspected cervical radiculopathy (CR). Fifty-three patients (29 men and 24 women), referred for electrodiagnostic testing, were positive for at least one of four clinical criteria for CR: abnormal (1) history, (2) motor (...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/(sici)1097-4598(199908)22:8<1075::aid-mus1

    authors: Miller TA,Pardo R,Yaworski R

    更新日期:1999-08-01 00:00:00

  • Dietary treatment of gluten neuropathy.

    abstract::We studied the effect of a gluten-free diet in patients with idiopathic sensorimotor axonal neuropathy and circulating antigliadin antibodies. Consecutive patients underwent baseline neurophysiological assessment and were offered a gluten-free diet. Those who went on the diet formed the intention-to-treat group and th...

    journal_title:Muscle & nerve

    pub_type: 临床试验,杂志文章

    doi:10.1002/mus.20642

    authors: Hadjivassiliou M,Kandler RH,Chattopadhyay AK,Davies-Jones AG,Jarratt JA,Sanders DS,Sharrack B,Grünewald RA

    更新日期:2006-12-01 00:00:00

  • The relation between conduction velocity and axonal length.

    abstract::Motor evoked potentials (MEPs) obtained by electrical root stimulation and F waves were used to examine the proximal nerve conduction velocity (CV) to tibialis anterior (TA), extensor digitorum brevis (EDB), flexor carpi radialis (FCR), and abductor pollicis brevis (APB) muscles in 40 humans. By subtracting motor late...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.880181105

    authors: Zwarts MJ,Guechev A

    更新日期:1995-11-01 00:00:00

  • Randomized controlled trial of strength training in post-polio patients.

    abstract::Many post-polio patients develop new muscle weakness decades after the initial illness. However, its mechanism and treatment are controversial. The purpose of this study was to test the hypotheses that: (1) after strength training, post-polio patients show strength improvement comparable to that seen in the healthy el...

    journal_title:Muscle & nerve

    pub_type: 临床试验,杂志文章,随机对照试验

    doi:10.1002/mus.10327

    authors: Chan KM,Amirjani N,Sumrain M,Clarke A,Strohschein FJ

    更新日期:2003-03-01 00:00:00

  • A novel points system to predict the prognosis of ulnar neuropathy at the elbow.

    abstract:INTRODUCTION:In this study we aimed to identify prognostic factors of ulnar neuropathy at the elbow (UNE) and developed a scoring system to establish the prognosis. METHODS:We collected baseline clinical, electrophysiologic, and ultrasonographic data from 2 cohorts. The outcomes for all patients were determined on fol...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.25406

    authors: Beekman R,Zijlstra W,Visser LH

    更新日期:2017-05-01 00:00:00

  • Validity and reliability of the Purdue Pegboard Test in carpal tunnel syndrome.

    abstract::There is a paucity of validated tests to quantify hand function impairment due to carpal tunnel syndrome (CTS). The aim of this study was to test the validity and reliability of the Purdue Pegboard Test (PPT) in CTS patients. We compared 190 CTS patients with 122 healthy, age-matched controls. CTS severity was determi...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.21856

    authors: Amirjani N,Ashworth NL,Olson JL,Morhart M,Chan KM

    更新日期:2011-02-01 00:00:00

  • Nerve ultrasound in electrophysiologically verified tarsal tunnel syndrome.

    abstract:INTRODUCTION:Tarsal tunnel syndrome (TTS) arises from tibial nerve damage under the flexor retinaculum of the fibro-osseus tunnel at the medial malleolus. It is notoriously difficult to diagnose, as many other foot pathologies result in a similar clinical picture. We examined the additional value of nerve ultrasound in...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.24963

    authors: Samarawickrama D,Therimadasamy AK,Chan YC,Vijayan J,Wilder-Smith EP

    更新日期:2016-06-01 00:00:00

  • Interaction of thyroid state and denervation on skeletal myosin heavy chain expression.

    abstract::The goal of this study was to examine the effects of altered thyroid state and denervation (Den) on skeletal myosin heavy chain (MHC) expression in the plantaris and soleus muscles. Rats were subjected to unilateral denervation (Den) and randomly assigned to one of three groups: (1) euthyroid; (2) hyperthyroid; (3) an...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/(sici)1097-4598(199712)20:12<1487::aid-mus

    authors: Haddad F,Arnold C,Zeng M,Baldwin K

    更新日期:1997-12-01 00:00:00

  • Small-fiber neuropathy.

    abstract::Small-fiber neuropathy is a common disorder. It is often "idiopathic" and typically presents with painful feet in patients over the age of 60. Autoimmune mechanisms are often suspected, but rarely identified. Known causes of small-fiber neuropathy include diabetes mellitus, amyloidosis, toxins, and inherited sensory a...

    journal_title:Muscle & nerve

    pub_type: 杂志文章,评审

    doi:10.1002/mus.10181

    authors: Lacomis D

    更新日期:2002-08-01 00:00:00

  • The effect of fatigue on knee position sense is not dependent upon the muscle group fatigued.

    abstract:INTRODUCTION:Muscle fatigue could have a greater impact on position sense when antagonists of the movement are fatigued. Hence, this study aimed to compare the effects of antagonist and agonist exercise-induced muscle fatigue on knee joint position sense. METHODS:This within-subjects repeated-measures study included 4...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.22018

    authors: Ribeiro F,Venâncio J,Quintas P,Oliveira J

    更新日期:2011-08-01 00:00:00

  • Feasibility of contact heat evoked potentials for detection of diabetic neuropathy.

    abstract:INTRODUCTION:The involvement of small myelinated fibers in the early stages of diabetic neuropathy (DN) has been suggested, but few objective methods can identify minimal neuropathy. The purpose of this study was to determine whether there are differences in contact heat evoked potential (CHEP) parameters between healt...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.22192

    authors: Wong MC,Chung JW

    更新日期:2011-12-01 00:00:00

  • Monofocal motor neuropathy: Improvement with intravenous immunoglobulin.

    abstract::Multifocal motor neuropathy (MMN) is a chronic, immune-mediate, peripheral myelinopathy. Inherent in its name, MMN implies involvement of two or more motor nerves. We report three patients with weakness and partial motor conduction block restricted to a single nerve and localized to sites that are not at risk for entr...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.10088

    authors: Felice KJ,Goldstein JM

    更新日期:2002-05-01 00:00:00

  • The effect of paired stimuli on blink reflex latencies in normal subjects.

    abstract:INTRODUCTION:In this study we assessed the effect of paired stimuli on the latencies and amplitudes of the blink reflex. METHODS:Blink reflexes were performed with single and paired (5-ms interstimulus interval) stimuli in 47 patients. The changes in latencies between paired and single stimuli were calculated. RESULT...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.22034

    authors: Rubin DI,Dimberg EL,Kennelly KD

    更新日期:2011-08-01 00:00:00

  • Distal sensory nerve conduction of the superficial peroneal nerve: new method and its clinical application.

    abstract::The superficial peroneal nerve subserves sensation on the entire surface of the dorsum of the foot, except in small areas. All previously reported techniques for evaluating nerve conduction along this nerve tested a proximal portion of the nerve. We report a new method for evaluating sensory nerve conduction of the fo...

    journal_title:Muscle & nerve

    pub_type: 临床试验,杂志文章

    doi:10.1002/mus.1056

    authors: Oh SJ,Demirci M,Dajani B,Melo AC,Claussen GC

    更新日期:2001-05-01 00:00:00

  • Thalidomide neuropathy in patients treated for metastatic prostate cancer.

    abstract::We prospectively evaluated thalidomide-induced neuropathy using electrodiagnostic studies. Sixty-seven men with metastatic androgen-independent prostate cancer in an open-label trial of oral thalidomide underwent neurologic examinations and nerve conduction studies (NCS) prior to and at 3-month intervals during treatm...

    journal_title:Muscle & nerve

    pub_type: 临床试验,杂志文章,随机对照试验

    doi:10.1002/mus.1109

    authors: Molloy FM,Floeter MK,Syed NA,Sandbrink F,Culcea E,Steinberg SM,Dahut W,Pluda J,Kruger EA,Reed E,Figg WD

    更新日期:2001-08-01 00:00:00

  • Effects of transcranial magnetic stimulation on results of the twitch interpolation technique.

    abstract::To investigate whether transcranial magnetic stimulation (TMS) has an effect on isometric muscle force elicited by maximal voluntary contractions (MVC) and the ability to activate a muscle voluntarily (VA, as a percentage of full muscle activation), a twitch-interpolation technique was applied on the quadriceps femori...

    journal_title:Muscle & nerve

    pub_type: 临床试验,杂志文章

    doi:10.1002/1097-4598(200007)23:7<1125::aid-mus18>3.0.

    authors: Urbach D,Awiszus F

    更新日期:2000-07-01 00:00:00

  • Slower conduction velocity and motor unit discharge frequency are associated with muscle fatigue during isometric exercise in type 1 diabetes mellitus.

    abstract::Type 1 diabetes mellitus (T1DM) is associated with a peripheral neuropathy that reduces nerve conduction velocity. This may impair high motor-unit discharge frequencies (MUDF), decrease muscle activation, and curtail the ability to sustain repetitive contractile tasks. We examined (1) whether MUDF, the contractile pro...

    journal_title:Muscle & nerve

    pub_type: 临床试验,杂志文章

    doi:10.1002/mus.20919

    authors: Almeida S,Riddell MC,Cafarelli E

    更新日期:2008-02-01 00:00:00

  • Cytoplasmic body myopathy masquerading as motor neuron disease.

    abstract::Cytoplasmic body myopathy (CBM) is characterized by proteinaceous inclusion bodies in muscle tissue. A 43-year-old woman presented with rapidly progressive weakness and dysphagia. Electromyography (EMG) elsewhere demonstrated lower-limb chronic partial denervation. Muscle biopsy showed fiber size variation without dia...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.20115

    authors: Krishnan AV,Pamphlett R,Burke D,Wills EJ,Kiernan MC

    更新日期:2004-11-01 00:00:00

  • Atypical phenotype of charcot-marie-tooth disease type 1A.

    abstract::Two sisters with a Charcot-Marie-Tooth disease type 1A (CMT1A) duplication, who had an unusual CMT1A clinical phenotype, are described. The 63-year-old proband presented with dysesthesia on the inner side of the right leg. Neurological examination revealed a localized sensory disturbance in the lower extremities and m...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/(sici)1097-4598(199911)22:11<1593::aid-mus

    authors: Murakami T,Oomori H,Hara A,Uyama E,Mita S,Uchino M

    更新日期:1999-11-01 00:00:00

  • Electrical stimulation impairs early functional recovery and accentuates skeletal muscle atrophy after sciatic nerve crush injury in rats.

    abstract::Neuromuscular recovery after peripheral nerve lesion depends on the regeneration of severed axons that re-establish their functional connection with the denervated muscle. The aim of this study was to determine the effects of electrical stimulation (ES) on the neuromuscular recovery after nerve crush injury in rats. E...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.21549

    authors: Gigo-Benato D,Russo TL,Geuna S,Domingues NR,Salvini TF,Parizotto NA

    更新日期:2010-05-01 00:00:00

  • A RYR1 mutation associated with recessive congenital myopathy and dominant malignant hyperthermia in Asian families.

    abstract::In this study we present 3 families with malignant hyperthermia (MH), all of Indian subcontinent descent. One individual from each of these families was fully sequenced for RYR1 and presented with the non-synonymous change c.11315G>A/p.R3772Q. When present in the homozygous state c.11315*A is associated with myopathic...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.21397

    authors: Carpenter D,Ismail A,Robinson RL,Ringrose C,Booms P,Iles DE,Halsall PJ,Steele D,Shaw MA,Hopkins PM

    更新日期:2009-10-01 00:00:00

  • Chronic peripheral nerve compression disrupts paranodal axoglial junctions.

    abstract:INTRODUCTION:Peripheral nerves are often exposed to mechanical stress leading to compression neuropathies. The pathophysiology underlying nerve dysfunction by chronic compression is largely unknown. METHODS:We analyzed molecular organization and fine structures at and near nodes of Ranvier in a compression neuropathy ...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.25273

    authors: Otani Y,Yermakov LM,Dupree JL,Susuki K

    更新日期:2017-04-01 00:00:00

  • Stem cell route to neuromuscular therapies.

    abstract::As applied to skeletal muscle, stem cell therapy is a reincarnation of myoblast transfer therapy that has resulted from recent advances in the cell biology of skeletal muscle. Both strategies envisage the reconstruction of damaged muscle from its precursors, but stem cell therapy employs precursors that are earlier in...

    journal_title:Muscle & nerve

    pub_type: 杂志文章,评审

    doi:10.1002/mus.10243

    authors: Partridge TA

    更新日期:2003-02-01 00:00:00

  • Activity of Krebs cycle enzymes in mdx mice.

    abstract:INTRODUCTION:Duchenne muscular dystrophy (DMD) is a degenerative disease of skeletal, respiratory, and cardiac muscles caused by defects in the dystrophin gene. More recently, brain involvement has been verified. Mitochondrial dysfunction and oxidative stress may underlie the pathophysiology of DMD. In this study we ev...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.24704

    authors: Comim CM,Hoepers A,Ventura L,Freiberger V,Dominguini D,Mina F,Mendonça BP,Scaini G,Vainzof M,Streck EL,Quevedo J

    更新日期:2016-01-01 00:00:00

  • Calf enlargement in hereditary motor and sensory neuropathy.

    abstract::Six members originating from two families with hereditary motor and sensory neuropathy (hypertrophic and neuronal types) were noted to have enlarged calf muscles. Muscle computed tomography revealed that muscle enlargement in the propositus of the family with the hypertrophic type of HMSN was due to an increase in mus...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.880130109

    authors: De Visser M,Hoogendijk JE,Ongerboer BW,Verbeeten BJ Jr

    更新日期:1990-01-01 00:00:00

  • Changes in intramuscular collagen and fibronectin in denervation atrophy.

    abstract::The distribution of collagen types I, III, and V and fibronectin was investigated by means of immunofluorescent techniques in denervated and normal rat skeletal muscle. During a period of 28 days, a distinct atrophy developed in the denervated gastrocnemius muscle and was accompanied by an increase in types I and III ...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.880080208

    authors: Salonen V,Lehto M,Kalimo M,Penttinen R,Aro H

    更新日期:1985-02-01 00:00:00

  • Analysis of muscle fiber clustering in the diaphragm muscle of sarcopenic mice.

    abstract:INTRODUCTION:Sarcopenia likely comprises muscle fiber denervation and re-innervation, resulting in clustering of muscle fibers of the same type (classified by myosin heavy chain isoform composition). Development of methodology to quantitatively evaluate clustering of muscle fibers according to fiber type is necessary. ...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.24641

    authors: Greising SM,Medina-Martínez JS,Vasdev AK,Sieck GC,Mantilla CB

    更新日期:2015-07-01 00:00:00

  • Feasibility of Muscle Activity Assessment With Surface Electromyography During Bed Cycling Exercise In Intensive Care Unit Patients.

    abstract:INTRODUCTION:Intensive care unit (ICU) patients often develop weakness. Rehabilitation is initiated early to prevent physical deterioration, but knowledge of optimal training schedules is lacking. A reliable method to assess muscle activity during exercise is needed. In this study we explored the feasibility of electri...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.26330

    authors: Sommers J,Van Den Boorn M,Engelbert RHH,Nollet F,Van Der Schaaf M,Horn J

    更新日期:2018-11-01 00:00:00

  • Membrane alterations in skeletal muscle fibers of dystrophic mice.

    abstract::Skeletal muscle fibers from dystrophic mice and littermate controls (ReJ-129) were characterized electrically and then injected with an intracellular marker. In this way they could be identified for examination with an electron microscope to correlate the relative time course of electrical and ultrastructural alterati...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.880060104

    authors: Kerr LM,Sperelakis N

    更新日期:1983-01-01 00:00:00

  • The motor end-plate fine structure and ultrastructural localization of acetylcholine receptors in amyotrophic lateral sclerosis.

    abstract::The motor end-plate fine structure and distribution of junctional acetylcholine receptors (AChRs) in patients with amyotrophic lateral sclerosis (ALS) were studied. Morphometric analysis was carried out in 74 end-plates (92 innervated and 47 denuded postsynaptic regions) from 10 patients with ALS. AChR was studied by ...

    journal_title:Muscle & nerve

    pub_type: 杂志文章

    doi:10.1002/mus.880070310

    authors: Tsujihata M,Hazama R,Yoshimura T,Satoh A,Mori M,Nagataki S

    更新日期:1984-03-01 00:00:00