Clinical Follow-Up for Duchenne Muscular Dystrophy Newborn Screening: A Proposal.


:New developments in the rapid diagnosis and treatment of boys with Duchenne muscular dystrophy (DMD) have led to growing enthusiasm for instituting DMD newborn screening (NBS) in the United States. Our group has been interested in developing clinical guidance to be implemented consistently in specialty care clinics charged with the care of presymptomatically identified newborns referred after DMD-NBS. We reviewed the existing literature covering patient-centered clinical follow-up after NBS, educational material from public health and advocacy sites, and federal recommendations on effective NBS follow-up. We discussed the review as a group and added our own experience to develop materials suitable for initial parent and primary care provider education. These materials and a series of templates for subspecialist encounters could be used to provide consistent care across centers and serve as the basis for ongoing quality improvement. Muscle Nerve 54: 186-191, 2016.


Muscle Nerve


Muscle & nerve


Kwon JM,Abdel-Hamid HZ,Al-Zaidy SA,Mendell JR,Kennedy A,Kinnett K,Cwik VA,Street N,Bolen J,Day JW,Connolly AM




Has Abstract


2016-08-01 00:00:00












  • PPARδ preserves a high resistance to fatigue in the mouse medial gastrocnemius after spinal cord transection.

    abstract:INTRODUCTION:Skeletal muscle oxidative capacity decreases and fatigability increases after spinal cord injury. Transcription factor peroxisome proliferator-activated receptor δ (PPARδ) promotes a more oxidative phenotype. METHODS:We asked whether PPARδ overexpression could ameliorate these deficits in the medial gastr...

    journal_title:Muscle & nerve

    pub_type: 杂志文章


    authors: Kim JA,Roy RR,Zhong H,Alaynick WA,Embler E,Jang C,Gomez G,Sonoda T,Evans RM,Edgerton VR

    更新日期:2016-02-01 00:00:00

  • Consideration of repetitive nerve stimulation of the median nerve in patients being evaluated for myasthenia gravis.

    abstract::Repetitive nerve stimulation (RNS) of the median nerve is rarely studied in myasthenia gravis (MG). We performed a retrospective analysis of RNS studies performed on 448 patients at our center between 2010 and 2016. Among 95 patients with MG, an abnormal decrement of the compound muscle action potential amplitude was ...

    journal_title:Muscle & nerve

    pub_type: 杂志文章


    authors: Lee TH,Li Y

    更新日期:2019-12-01 00:00:00

  • The current place of high-dose immunoglobulins in the treatment of neuromuscular disorders.

    abstract::High-dose immunoglobulins for intravenous administration (IVIg) have originally been developed for substitution therapy in hypogammaglobulinemia. Over the last decade they are increasingly used in the treatment of immune-mediated diseases. In this review the results in immune-mediated neuromuscular diseases are summar...

    journal_title:Muscle & nerve

    pub_type: 杂志文章,评审


    authors: van der Meché FG,van Doorn PA

    更新日期:1997-02-01 00:00:00

  • Physiological cross-sectional area of the oblique head of the adductor pollicis is greater than its transverse counterpart: implications for functional testing.

    abstract:INTRODUCTION:Despite structural distinction between the transverse and oblique heads of the adductor pollicis, in vivo testing continues to consider the adductor pollicis as functionally simplistic. As a muscle's architecture is a strong indicator of function, in this study we aimed to determine whether the physiologic...

    journal_title:Muscle & nerve

    pub_type: 杂志文章


    authors: Stamenkovic A,Munro BJ,Peoples GE

    更新日期:2014-03-01 00:00:00

  • Decremental response of the nasalis and hypothenar muscles in myasthenia gravis.

    abstract::Repetitive nerve stimulation (RNS) is a standard diagnostic procedure in myasthenia gravis (MG). Although RNS sensitivity is highest in weak muscles, RNS is easier to perform in distal muscles that are often not affected. Twenty-five patients with MG were assessed to compare the sensitivity of RNS of the nasalis muscl...

    journal_title:Muscle & nerve

    pub_type: 临床试验,杂志文章


    authors: Niks EH,Badrising UA,Verschuuren JJ,Van Dijk JG

    更新日期:2003-08-01 00:00:00

  • Vasomotor dysfunction in carpal tunnel syndrome.

    abstract::Little attention has been paid to small-fiber dysfunction in carpal tunnel syndrome (CTS) although its symptoms are common. This study investigates vasomotor dysfunction, which is controlled by small nerve fibers, in patients with CTS compared with control subjects. Vasomotor function was quantified by measuring, with...

    journal_title:Muscle & nerve

    pub_type: 杂志文章


    authors: Wilder-Smith EP,Fook-Chong S,Chew SE,Chow A,Guo Y

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  • Randomized, double-blind trial of mazindol in Duchenne dystrophy.

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    journal_title:Muscle & nerve

    pub_type: 临床试验,杂志文章,随机对照试验


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    journal_title:Muscle & nerve

    pub_type: 杂志文章


    authors: Rhodes RH,Sharer LR

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  • Anconeus motor unit number estimates using decomposition-based quantitative electromyography.

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    journal_title:Muscle & nerve

    pub_type: 杂志文章


    authors: Stevens DE,Harwood B,Power GA,Doherty TJ,Rice CL

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  • Quantitation of central activation failure during maximal voluntary contractions in humans.

    abstract::Muscle fatigue or neuromuscular disease may result in central activation failure during maximal voluntary contractions (MVCs). Superimposition of an electrically stimulated contraction during an MVC has been used to detect central activation failure. To determine the most sensitive means of quantitating central activa...

    journal_title:Muscle & nerve

    pub_type: 杂志文章


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    journal_title:Muscle & nerve

    pub_type: 杂志文章


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    journal_title:Muscle & nerve

    pub_type: 杂志文章


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    journal_title:Muscle & nerve

    pub_type: 杂志文章


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    journal_title:Muscle & nerve

    pub_type: 杂志文章


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    更新日期:2016-08-01 00:00:00

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    journal_title:Muscle & nerve

    pub_type: 杂志文章


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    更新日期:2009-07-01 00:00:00

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    journal_title:Muscle & nerve

    pub_type: 杂志文章


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    journal_title:Muscle & nerve

    pub_type: 杂志文章,评审


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    更新日期:2000-05-01 00:00:00

  • Normative values and the effects of age, gender, and handedness on the Moberg Pick-Up Test.

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    journal_title:Muscle & nerve

    pub_type: 杂志文章


    authors: Amirjani N,Ashworth NL,Gordon T,Edwards DC,Chan KM

    更新日期:2007-06-01 00:00:00

  • Frontal plane ankle proprioceptive thresholds and unipedal balance.

    abstract::Reliable unipedal balance is fundamental to safe ambulation. Accordingly, older persons with peripheral neuropathy (PN), who are at increased risk for falls, demonstrate impaired unipedal balance. To explore the relationship between afferent function and unipedal balance, frontal plane proprioceptive thresholds at the...

    journal_title:Muscle & nerve

    pub_type: 杂志文章


    authors: Son J,Ashton-Miller JA,Richardson JK

    更新日期:2009-02-01 00:00:00

  • Proximal median neuropathy secondary to humeral neck fracture.

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    journal_title:Muscle & nerve

    pub_type: 杂志文章


    authors: Veilleux M,Richardson P

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    abstract::Muscle cramps are difficult to study scientifically because of their spontaneity and unpredictability. Various laboratory techniques to induce muscle cramps have been explored but the best technique for inducing cramps is unclear. Electrical stimulation appears to be the most reliable, but there is a perception that i...

    journal_title:Muscle & nerve

    pub_type: 临床试验,杂志文章


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    更新日期:2007-11-01 00:00:00

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    abstract::The clinical and neurophysiological features of multifocal motor neuropathy (MMN) indicate selective involvement of motor axons, but pathological abnormalities in sensory axons suggest a more widespread disease process. The present study was undertaken to determine whether the focal abnormalities are associated with w...

    journal_title:Muscle & nerve

    pub_type: 杂志文章


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    journal_title:Muscle & nerve

    pub_type: 杂志文章


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    更新日期:1994-06-01 00:00:00

  • Neuromuscular responses of patients with multiple sclerosis.

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    journal_title:Muscle & nerve

    pub_type: 杂志文章


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    更新日期:1992-10-01 00:00:00

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    journal_title:Muscle & nerve

    pub_type: 杂志文章,评审


    authors: Partridge TA

    更新日期:2003-02-01 00:00:00

  • Single fiber macro versus concentric trigger macro EMG: a comparison of methods.

    abstract::The values obtained from two different macro EMG methods were compared, and found to be different. Normally, macro electromyography (EMG) is performed with a modified single fiber (SF) needle using the SF potential as a trigger; a new method recommends a modified concentric needle and triggers on the concentric EMG si...

    journal_title:Muscle & nerve

    pub_type: 杂志文章


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    更新日期:1992-02-01 00:00:00

  • The electrodiagnostic findings in polyneuropathies associated with IgM monoclonal gammopathies.

    abstract::Electrodiagnostic studies were analyzed in patients with neuropathy associated with IgM monoclonal proteins, 7 with anti-myelin associated glycoprotein reactivity (MAG) and 7 nonreactive to MAG. The findings were distinctly different in the two groups. The electrodiagnostic studies of all the MAG-reactive patients had...

    journal_title:Muscle & nerve

    pub_type: 杂志文章


    authors: Kelly JJ Jr

    更新日期:1990-12-01 00:00:00

  • The dropped head syndrome with chronic inflammatory demyelinating polyneuropathy.

    abstract::The dropped head syndrome occurs in a variety of neuromuscular disorders. We present a woman with chronic inflammatory demyelinating polyneuropathy who developed this syndrome, likely reflecting severe demyelination of nerves to cervical paraspinal muscles. ...

    journal_title:Muscle & nerve

    pub_type: 杂志文章


    authors: Hoffman D,Gutmann L

    更新日期:1994-07-01 00:00:00

  • Perioral reflexes in orofacial dyskinesia and spasmodic dysphonia.

    abstract::In order to assess the clinical utility of trigemino-facial reflexes in lower facial muscles, we studied perioral reflexes to mechanical and electrical stimulation in 13 patients with spasmodic dysphonia and orofacial dyskinesia and in 7 healthy subjects. Mechanical stimulation of the upper lip of all patients and ele...

    journal_title:Muscle & nerve

    pub_type: 杂志文章


    authors: Topka H,Hallett M

    更新日期:1992-09-01 00:00:00

  • The thoracic outlet syndromes.

    abstract::The term thoracic outlet syndrome (TOS) refers to a heterogeneous group of disorders, all of which have in common compression of one or more neurovascular elements at some point within the thoracic outlet. Of the five disorders comprising this group, four have all of the features expected of a syndrome-a recognized co...

    journal_title:Muscle & nerve

    pub_type: 杂志文章,评审


    authors: Ferrante MA

    更新日期:2012-06-01 00:00:00