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Congenital Myopathies Workup

  • Author: Glenn Lopate, MD; Chief Editor: Amy Kao, MD  more...
Updated: Aug 13, 2014

Laboratory Studies

Creatine kinase level

Creatine kinase (CK) level is either in the reference range or mildly elevated in all of the congenital myopathies.

It can be elevated moderately in central core disease (CCD) and may also be elevated in asymptomatic carriers of the ryanodine receptor mutation in CCD.

If the CK level is very high, other disorders such as Duchenne-Becker or limb-girdle muscular dystrophy, should be considered.


Other Tests

Electromyography and nerve conduction studies

Electromyography (EMG) and nerve conduction studies (NCSs) should be performed in all patients in whom a congenital myopathy is suspected.

In the differential diagnosis, rule out other diseases such as spinal muscular atrophy, congenital myasthenia, and hereditary neuropathy.

In congenital myopathy, NCS findings are normal and EMG findings are either normal or show the typical small-amplitude, narrow-duration motor unit potentials (MUPs) that are seen in myopathies. Fibrillations and positive sharp waves are rare.

Electrocardiography (ECG)

Cardiac disease may be prominent in nemaline myopathy or, at times, in other congenital myopathies. Obtain ECG when considering these diagnoses.



Muscle biopsy

Obtain a muscle biopsy in all patients in whom a congenital myopathy is suspected. Pathological examination should be performed at a center whose staff has expertise in muscle pathology.

Other causes of weakness need to be ruled out. In addition, the morphologic characteristics necessary to make the diagnosis need to be established.

Ultrastructural examination of muscle is often necessary, since several of the pathologic features are based on the EM appearance of muscle.

Contributor Information and Disclosures

Glenn Lopate, MD Associate Professor, Department of Neurology, Division of Neuromuscular Diseases, Washington University School of Medicine; Consulting Staff, Department of Neurology, Barnes-Jewish Hospital

Glenn Lopate, MD is a member of the following medical societies: American Academy of Neurology, American Association of Neuromuscular and Electrodiagnostic Medicine, Phi Beta Kappa

Disclosure: Nothing to disclose.

Specialty Editor Board

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Received salary from Medscape for employment. for: Medscape.

Kenneth J Mack, MD, PhD Senior Associate Consultant, Department of Child and Adolescent Neurology, Mayo Clinic

Kenneth J Mack, MD, PhD is a member of the following medical societies: American Academy of Neurology, Child Neurology Society, Phi Beta Kappa, Society for Neuroscience

Disclosure: Nothing to disclose.

Chief Editor

Amy Kao, MD Attending Neurologist, Children's National Medical Center

Amy Kao, MD is a member of the following medical societies: American Academy of Neurology, American Epilepsy Society, Child Neurology Society

Disclosure: Have stock from Cellectar Biosciences; have stock from Varian medical systems; have stock from Express Scripts.

Additional Contributors

Robert J Baumann, MD Professor of Neurology and Pediatrics, Department of Neurology, University of Kentucky College of Medicine

Robert J Baumann, MD is a member of the following medical societies: American Academy of Neurology, American Academy of Pediatrics, Child Neurology Society

Disclosure: Nothing to disclose.

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Central core disease, nicotinamide adenine dinucleotide (NADH) stain. In the central core, mitochondria and oxidative enzymes are absent. Cores are also present on cytochrome oxidase and succinate dehydrogenase (SDH) stains.
Nemaline rod myopathy, Gomori trichrome (GT) stain. Dark blue structures are seen only with this stain. They contain Z disk material, including alpha-actinin and tropomyosin.
Centronuclear myopathy, hematoxylin and eosin stain. Note the numerous, centrally placed nuclei. Normal nuclei are at the periphery of the muscle fiber.
Tubular aggregates, nicotinamide adenine dinucleotide (NADH) stain. Cytoplasmic collections of membranous tubules (derived from the sarcoplasmic reticulum) can be present in various myopathies, including myopathy with tubular aggregates, hypokalemic periodic paralysis, malignant hyperthermia, myotonia congenita, and ceratin toxic myopathies.
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