Congenital Myopathies Questions & Answers

Updated: Mar 11, 2019
  • Author: Matthew Harmelink, MD; Chief Editor: Amy Kao, MD  more...
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Questions & Answers

Overview

What are congenital myopathies?

What is the pathophysiology of congenital myopathies?

What is the prevalence of congenital myopathies?

What is the mortality and morbidity associated with congenital myopathies?

What are the sexual predilections of congenital myopathies?

At what age are congenital myopathies typically diagnosed?

What is the prognosis of congenital myopathies?

Presentation

Which clinical history findings are characteristic of congenital myopathies?

What is nemaline myopathy (NEM)?

What causes nemaline myopathy 1 (NEM1)?

What causes nemaline myopathy 2 (NEM2)?

What causes nemaline myopathy 3 (NEM3)?

What causes nemaline myopathy 4 (NEM4)?

What causes nemaline myopathy 5 (NEM5)?

What causes nemaline myopathy 6 (NEM6)?

What causes nemaline myopathy 7 (NEM7)?

What causes nemaline myopathy 8 (NEM8)?

What causes nemaline myopathy 9 (NEM9)?

What causes nemaline myopathy 10 (NEM10)?

What are the pathologic findings characteristic of nemaline myopathy (NEM)?

What causes central core disease (CCD)?

What causes malignant hyperthermia?

What are the signs and symptoms hyperCKemia?

What causes multiminicore disease?

What are the centronuclear myopathies (CNMs)?

What causes centronuclear myopathy 1 (CNM1)?

What causes centronuclear myopathy 3 (CNM3)?

What causes centronuclear myopathy 4 (CNM4)?

What causes centronuclear myopathy 2 (CNM2)?

What causes centronuclear CNM5, CNM6 and CMN (RYR1)?

What is the role of titin in the etiology of centronuclear myopathies (CNMs)?

What causes centronuclear myopathy X (CNMX)?

Which pathologic findings are characteristic of centronuclear myopathies (CNMs)?

What causes congenital fiber-type disproportion 1 (CFTD1)?

What is the role of RYR1 in the etiology of congenital fiber-type disproportion (CFTD)?

What is congenital fiber-type disproportion (CFTD)?

What causes congenital fiber-type disproportion 2 (CFTD2)?

What causes congenital fiber-type disproportion 3 (CFTD3)?

What causes congenital fiber-type disproportion 4 (CFTD4)?

What causes congenital fiber-type disproportion 5 (CFTD5)?

What causes myosin storage myopathy (hyaline body myopathy)?

What causes sarcotubular myopathy?

What is the role of FHL1 mutations in the etiology of congenital myopathies?

What causes spheroid body myopathy?

What is the difference between probable and possible congenital myopathies?

What are the probable congenital myopathies?

What are possible congenital myopathies?

DDX

What are the differential diagnoses for Congenital Myopathies?

Workup

How are congenital myopathies diagnosed?

What is the role of lab testing in the workup of congenital myopathies?

What is the role of EMG in the workup of congenital myopathies?

What is the role of ECG in the workup of congenital myopathies?

What is the role of pulmonary function testing (PFT) and sleep studies in the workup of congenital myopathies?

What is the role of biopsy in the workup of congenital myopathies?

What is the role of imaging studies in the workup of congenital myopathies?

Treatment

How are congenital myopathies treated?

What is the focus of treatment for congenital myopathies?

How is muscle weakness treated in congenital myopathy?

How is respiratory weakness treated in congenital myopathy?

How is cardiac care selected for patients with congenital myopathies?

How are skeletal abnormalities treated in patients with congenital myopathies?

What is the role of orthopedic surgery in the treatment of congenital myopathies?

When is a gastrostomy tube indicated in the treatment of congenital myopathies?

When is tracheostomy indicated in the treatment of congenital myopathies?

Which specialist consultations are beneficial to patients with congenital myopathies?

Which dietary modifications are used in the treatment of congenital myopathies?

Which activity modifications are used in the treatment of congenital myopathies?

Follow-up

What is included in the long-term monitoring of congenital myopathies?

When is inpatient care indicated for the treatment of congenital myopathies?

How is malignant hyperthermia diagnosed and treated in patients with a congenital myopathy?

What are the possible complications of congenital myopathies?

What is included in patient education about congenital myopathies?