Congenital Muscular Dystrophy 

  • Author: Glenn Lopate, MD; Chief Editor: Amy Kao, MD   more...
 
Updated: Aug 17, 2011
 

Background

In 1903, Batten described 3 children who had proximal muscle weakness from birth. Biopsy of their muscles showed evidence of chronic myopathy without distinguishing characteristics. In 1908, Howard coined the term congenital muscular dystrophy (CMD) when he described another infant with similar features. Ullrich first described the combination of joint hyperlaxity and proximal contractures in 1930 in the German literature; this was the first case of what is now known as Ullrich congenital muscular dystrophy.

In 1960, Fukuyama et al described a common congenital muscular dystrophy in Japan that always had features of muscular dystrophy and brain pathology.[1] Other diseases involving the muscle, eye, and brain were subsequently described: a Finnish variant (originally called muscle-eye-brain disease and Walker-Warburg syndrome. As has become clear with molecular genetics, all of these CMDs are likely caused by a similar molecular pathologic event, abnormal glycosylation of α -dystroglycan.

In general, CMDs are autosomal recessive diseases resulting in severe proximal weakness at birth (or within the first 12 mo of life) that is either slowly progressive or nonprogressive. Contractures are common, and CNS abnormalities can occur. Muscle biopsy shows signs of dystrophy, including a marked increase in endomysial and perimysial connective tissue; variability in fiber size with small, round fibers; immature muscle fibers; and (uncommonly) necrotic muscle fibers. No distinguishing features are present in muscle biopsy specimens, differentiating these disorders from the congenital myopathies.

Classifications of congenital muscular dystrophy

Several authors of review articles have proposed classifications for the congenital muscular dystrophies. In 2011, Sparks and Escolar suggested the following scheme:[2]

  • Defects of structural proteins
    • Merosin deficient CMD (MDC1A); Laminin α 2
    • UCMD1; Collagen 6A1
    • UCMD2; Collagen 6A2
    • UCMD3; Collagen 6A3
    • Integrin α 7-deficiencient CMD; Integrin α 7
    • CMD with epidermolysis bullosa; Plectin
  • Defects of glycosylation Walker-Walburg syndrome
    • Muscle-eye brain disease
    • Fukuyama CMD; Fukutin
    • CMD with muscle hypertrophy; Fukutin-related protein
    • CMD with severe intellectual impairment and abnormal glycosylation; LARGE
  • Proteins of the endoplasmic reticulum and nucleus
    • Rigid spine syndrome; Selenoprotein N, 1
    • LMNA-deficient CMD; Laminin A/C

The OMIM classification of defects of glycosylation is as follows:

  • Muscular dystrophy-dystroglycanopathy A1 (MDDGA1 ) – POMT1 mutation
  • MDDGA2 – POMT2 mutation
  • MDDGA3 – POMGNT1 mutation
  • MDDGA4 – Fukutin mutation
  • MDDGA5 – FKRP mutation
  • MDDGA6 – LARGE mutation

Genetic features

Only the muscular dystrophies with known genetic mutations are discussed in more detail later in this article. Several rare forms of congenital muscular dystrophy are not discussed in this article because of the lack of precise molecular and/or genetic information. The diagnosis of congenital muscular dystrophy is now based on clinical findings, muscle biopsy results, and genetic information.

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Pathophysiology

The pathophysiology of the congenital muscular dystrophies depends on the specific genetic defect for each of the dystrophies and is discussed with each of the congenital muscular dystrophies below.

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Epidemiology

Frequency

International

In Japan, Fukuyama congenital muscular dystrophy is fairly common. It is approximately 50% as common as Duchenne muscular dystrophy. The estimated prevalence is approximately 7-12 cases per 100,000 children. In Italy, the prevalence of all congenital muscular dystrophies has been estimated to be 4.7 cases per 100,000 children, while in Sweden the incidence is estimated at 6.3 cases per 100,000 births. Only about 25-50% of patients with CMD have an identifiable genetic mutation.[2]

Mortality/Morbidity

  • Morbidity and mortality rates depend on the type of congenital muscular dystrophy.
  • The major causes of morbidity and mortality are related to respiratory insufficiency, bulbar and limb weakness, contractures, seizures, ocular pathology, and mental retardation and associated brain pathology.
  • Some children die in infancy, whereas others can live into adulthood with only minimal disability.

Race

No racial predilection is present.

Sex

These autosomal recessive diseases affect both sexes equally.

Age

Patients with congenital muscular dystrophy present at birth or within the first year of life.

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Contributor Information and Disclosures
Author

Glenn Lopate, MD  Associate Professor, Department of Neurology, Division of Neuromuscular Diseases, Washington University School of Medicine; Director of Neurology Clinic, St Louis ConnectCare; 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, and Phi Beta Kappa

Disclosure: Baxter Grant/research funds Other; Amgen Grant/research funds None

Specialty Editor Board

Robert Stanley Rust Jr, MD, MA  Thomas E Worrell Jr Professor of Epileptology and Neurology, Co-Director of FE Dreifuss Child Neurology and Epilepsy Clinics, Director, Child Neurology, University of Virginia School of Medicine; Chair-Elect, Child Neurology Section, American Academy of Neurology

Robert Stanley Rust Jr, MD, MA is a member of the following medical societies: American Academy of Neurology, American Epilepsy Society, American Headache Society, American Neurological Association, Child Neurology Society, International Child Neurology Association, and Society for Pediatric Research

Disclosure: Nothing to disclose.

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

Disclosure: Medscape Salary Employment

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, and 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 Academy of Pediatrics, American Epilepsy Society, and Child Neurology Society

Disclosure: Nothing to disclose.

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Dystrophin-glycoprotein complex. The complex bridges the inner cytoskeleton (F-actin) and the basal lamina. Mutations in laminin-α2, integrin α7, and O-glycosyltransferases that glycosylate alpha-dystroglycan all can cause congenital muscular dystrophy (CMD). Furthermore, mutations in collagen (not shown), which binds alpha-dystroglycan through perlecan and other proteoglycans, can cause CMD. Mutations in dystrophin, the sarcoglycans, dysferlin, and caveolin-3 can also cause muscular dystrophies. Reprinted with permission from Cohn RD. Dystroglycan: important player in skeletal muscle and beyond. In: Neuromuscular Disorders. Vol. 15. Cohn RD. Elsevier; 2005: 207-17. 7, 20
 
 
 
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