Congenital Muscular Dystrophy Questions & Answers

Updated: Jul 03, 2019
  • Author: Emad R Noor, MBChB; Chief Editor: Amy Kao, MD  more...
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Questions & Answers

Overview

What are congenital muscular dystrophies (CMDs)?

How are congenital muscular dystrophies (CMDs) classified?

How are congenital muscular dystrophies (CMDs) diagnosed?

What is the pathophysiology of congenital muscular dystrophies (CMDs)?

What is the prevalence of congenital muscular dystrophies (CMDs)?

What is the morbidity and mortality associated with congenital muscular dystrophies (CMDs)?

What are the sexual predilections of congenital muscular dystrophies (CMDs)?

At what age do congenital muscular dystrophies (CMDs) typically present?

Presentation

What are the signs and symptoms of classic congenital muscular dystrophy (CMD)?

What are the signs and symptoms of Ullrich congenital muscular dystrophy (CMD)?

What is integrin-alpha7 deficiency congenital muscular dystrophy (CMD)?

What are the signs and symptoms of congenital muscular dystrophy (CMD) with familial junctional epidermolysis bullosa?

What are the signs and symptoms of congenital muscular dystrophy (CMD) with rigid spine?

What are the signs and symptoms of LMNA-deficient congenital muscular dystrophy (CMD)?

What are the signs and symptoms of congenital muscular dystrophy (CMD) with mitochondrial structural abnormalities?

What are the signs and symptoms of glycosyltransferase deficiency congenital muscular dystrophy (CMD)?

What are the signs and symptoms of Fukuyama congenital muscular dystrophy (CMD)?

What are the signs and symptoms of muscle-eye-brain (MEB) disease?

What are the signs and symptoms of Walker-Warburg syndrome?

What are the signs and symptoms of FKRP deficiency-associated congenital muscular dystrophy (CMD)?

What are the signs and symptoms of POMT1 and POMT2 congenital muscular dystrophy (CMD)?

What are the signs and symptoms of LARGE congenital muscular dystrophy (CMD)?

What causes classic congenital muscular dystrophy (CMD)?

What causes Ullrich congenital muscular dystrophy (CMD)?

What causes integrin-alpha7 deficiency congenital muscular dystrophy (CMD)?

What causes congenital muscular dystrophy (CMD) with familial junctional epidermolysis bullosa?

What causes congenital muscular dystrophy (CMD) with rigid spine?

What causes congenital muscular dystrophy (CMD) with mitochondrial structural abnormalities?

What causes glycosyltransferase deficiency congenital muscular dystrophy (CMD)?

What causes POMT1-associated congenital muscular dystrophy (MDDGA1)?

What causes POMT2-associated congenital muscular dystrophy (MDDGA2)?

What causes POMGnT1-associated congenital muscular dystrophy (MDDGA3)?

What causes Fukuyama congenital muscular dystrophy (MDDGA4)?

What causes FKRP deficiency-associated congenital muscular dystrophy (MDDGA5)?

What causes LARGE congenital muscular dystrophy (MDDGA6)?

What causes ISPD-associated congenital muscular dystrophy (MDDGA7)?

What causes GTDC2-associated congenital muscular dystrophy (MDDGA8)?

What causes TMEM5-associated congenital muscular dystrophy (MDDGA10)?

What causes B3GALNT2-associated congenital muscular dystrophy (MDDGA11)?

What causes SGK196-associated congenital muscular dystrophy (MDDGA12)?

What causes B3GNT1-associated congenital muscular dystrophy (CMD)?

What causes GMPPB-associated congenital muscular dystrophy (CMD)?

What causes glycosylation-related congenital muscular dystrophy (CMD)?

What are the signs and symptoms of congenital muscular dystrophy (CMD)?

DDX

What are the differential diagnoses for Congenital Muscular Dystrophy?

Workup

How is congenital muscular dystrophy (CMD) diagnosed?

What is the role of lab tests in the workup of congenital muscular dystrophy (CMD)?

What is the role of imaging studies in the workup of congenital muscular dystrophy (CMD)?

What is the role of EMG and NCS in the workup of congenital muscular dystrophy (CMD)?

How is congenital muscular dystrophy (CMD) diagnosed prenatally?

What is the role of genetic testing in the workup of congenital muscular dystrophy (CMD)?

Which histologic findings are characteristic of Ullrich congenital muscular dystrophy?

What is the role of muscle biopsy in the workup of congenital muscular dystrophy (CMD)?

Which histologic findings are characteristic of congenital muscular dystrophy (CMD) with laminin-?2 deficiency?

Which histologic findings are characteristic of Integrin-?7 deficiency congenital muscular dystrophy (CMD)?

Which histologic findings are characteristic of congenital muscular dystrophy (CMD) with familial junctional epidermolysis bullosa?

Which histologic findings are characteristic of congenital muscular dystrophy (CMD) with rigid spine?

Which histologic findings are characteristic of glycotransferases in congenital muscular dystrophy (CMD)?

Treatment

How is congenital muscular dystrophy (CMD) treated?

What is the role of surgery in the treatment of congenital muscular dystrophy (CMD)?

Which specialist consultations are beneficial to patients with congenital muscular dystrophy (CMD)?

Follow-up

What is included in the long-term monitoring of congenital muscular dystrophy (CMD)?

When is inpatient care indicated for the treatment of

What are the possible complications of congenital muscular dystrophy (CMD)?

What is the prognosis of congenital muscular dystrophy (CMD)?

What is included in patient education about congenital muscular dystrophy (CMD)?