Sections

Follow-up

Further Outpatient Care

Follow-up and outpatient care depends on disease severity. In children, or a newly diagnosed patient, more frequent visits, such as every 3–6 months, can be considered. For older patients or those with milder disease, at least yearly visits are warranted.

At each visit care should be directed based on the exact needs of the patient but should also involve assessments of the following:

Muscle function
Contractures
Ability to perform activities of daily living
Cardiopulmonary function

For patients requiring more than one provider, consider a multidisciplinary approach.

Further Inpatient Care

Inpatient care is directed at specific needs. Often infants or neonates will have a longer inpatient stay after birth. Additionally, given the weak respiratory muscles, admission may be warranted as needed.

In patients with neuromuscular weakness the method of supportive care and methods of extubating differ from patients without muscle weakness. This often presents as different supportive settings, more frequent interventions by the respiratory therapist, and, in some cases, extubating the patient to non-invasive support regardless of how well they were doing on the ventilator. As such, consultation with a pulmonologist or critical care specialist who is experienced in caring for patients with neuromuscular disease is often warranted.

While ill, there are certain medications that should be avoided due to their muscle relaxant properties. While not an absolute contraindication, a patient;s underlying muscle weakness has the potential to significantly worsen when exposed to these medications.

Complications

Patients with central core disease (CCD) (less frequently with multicore disease) are inclined to develop malignant hyperthermia. However, since the precise diagnosis may not be known, precautions should be taken in all patients with a presumed diagnosis of congenital myopathy. General anesthesia usually triggers a full-blown episode, but excessive heat, neuroleptic drugs, alcohol, or infections may trigger milder episodes.

If surgery is required, these patients (and their relatives) should avoid inhaled anesthetics (except nitrous oxide) and succinylcholine.

Signs and symptoms of malignant hyperthermia include the following:

Elevated pCO₂
Muscle rigidity
Tachycardia
Hemodynamic instability
Hyperventilation
Cyanosis
Lactic acidosis
Fever
Hyperkalemia
Hypercalcemia
Myoglobinuria
Death may result from pulmonary edema, coagulopathy, ventricular fibrillation, cerebral edema, or renal failure

Appropriate treatment includes the following:

Stopping inhalational anesthetics or succinylcholine
Hyperventilating the patient with 100% oxygen
Administering dantrolene up to 10 mg/kg
Providing bicarbonate for metabolic acidosis
Cooling the patient
Monitoring for arrhythmias and hyperkalemia
Maintaining urine output over 2 mL/kg/h
Avoiding calcium antagonists and beta-blockers
Monitoring in an ICU for 24–48 hours

Cardiac involvement can occur in patients with congenital myopathies, especially nemaline myopathy, CCD, and multiminicore disease.

Pulmonary insufficiency can occur in any form of congenital myopathy that presents with severe neonatal hypotonia. It is more common or more severe in nemaline myopathy, X-linked and autosomal myotubular/centronuclear myopathy, multiminicore disease, and reducing body myopathy. This is especially important to assess before surgery since postoperative respiratory failure can occur.

Skeletal deformities, including contractures and scoliosis, are common in patients with most of the congenital myopathies.

Obstetric complications during childbirth are uncommon in mothers with congenital myopathy. However, neonatal complications can include polyhydramnios; decreased fetal movements; or complications related to fetal distress, abnormal presentation, failure to progress, or prematurity.

Patient Education

Genetic counseling is often helpful to assist patients with family-planning decisions. However, definitive prenatal diagnosis is only possible if a disease-causing mutation has been identified. Genetic counseling is especially important for families of patients with CCD to avoid unexpected cases of malignant hyperthermia in asymptomatic relatives.

Questions

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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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Author

Matthew Harmelink, MD Associate Professor of Neuology, Heidi-Marie Baumann Chair in Child Neurology, Section Chief and Medical Director, Child Neurology Section, Director, Pediatric Neuromuscular Program, Co-Director, Neurogenetics Clinic, Medical College of Wisconsin and Children’s Hospital of Wisconsin

Matthew Harmelink, MD is a member of the following medical societies: American Academy of Neurology, American Association of Neuromuscular and Electrodiagnostic Medicine

Disclosure: Serve(d) as a director, officer, partner, employee, advisor, consultant or trustee for: Three Gaits, Inc (Non-profit therapeutic riding stable)<br/>Serve(d) as a speaker or a member of a speakers bureau for: Biogen<br/>Received research grant from: CureSMA<br/>Received income in an amount equal to or greater than $250 from: Biogen (Consultant, Advisory Board); Avexis (Advisory Board); PTC (Advisory Board); Sarepta (Advisory Board); Connected Research & Consulting (Consulting); Optio Biopharma Solutions, LLC (Consulting).

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 (managed by a financial services company) in healthcare companies including Allergan, Cellectar Biosciences, CVS Health, Danaher Corp, Johnson & Johnson.

Additional Contributors

Glenn Lopate, MD Associate Professor, Department of Neurology, Division of Neuromuscular Diseases, Washington University in St Louis 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.

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.

Congenital Myopathies Follow-up

Further Outpatient Care

Further Inpatient Care

Complications

Patient Education

References

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