Congenital Muscular Dystrophy and Congenital Myopathy.

07:00 EST 1st December 2019 | BioPortfolio

Summary of "Congenital Muscular Dystrophy and Congenital Myopathy."

Congenital muscular dystrophies and congenital myopathies are a heterogeneous group of disorders resulting in hypotonia, muscle weakness, and dystrophic or myopathic features on muscle biopsy. This article summarizes the clinical and genetic aspects of these disorders.


Journal Details

This article was published in the following journal.

Name: Continuum (Minneapolis, Minn.)
ISSN: 1538-6899
Pages: 1640-1661


DeepDyve research library

PubMed Articles [1933 Associated PubMed Articles listed on BioPortfolio]

Complex rhinobronchial dystrophy and immunodeficiency: Chance association or exceptional congenital syndrome?

We report a case of an exceptional syndromic association of apparently congenital rhinobronchial dystrophy associated with congenital anosmia and common variable immunodeficiency in a twelve-year-old ...

Congenital muscular torticollis: where are we today? A retrospective analysis at a tertiary hospital.

The congenital muscular torticollis is characterized by a persistent lateral flexion of the head to the affected side and cervical rotation to the opposite side due to unilateral shortening of the ste...

Functional rescue in a mouse model of congenital muscular dystrophy with megaconial myopathy.

Congenital muscular dystrophy with megaconial myopathy (MDCMC) is an autosomal recessive disorder characterized by progressive muscle weakness and wasting. The observation of megamitochondria in skele...

A Novel De Novo Heterozygous SCN4a Mutation Causing Congenital Myopathy, Myotonia and Multiple Congenital Anomalies.

The phenotypic spectrum of the skeletal muscle voltage-gated sodium channel gene (SCN4A) mutations has been expanding dramatically with advancements in genetic testing. Previously only known to cause ...

ASC1 is a cell cycle regulator associated with severe and mild forms of myopathy.

Recently, the ASC-1 complex has been identified as a mechanistic link between ALS and spinal muscular atrophy (SMA), and three mutations of the ASC-1 gene TRIP4 have been associated with SMA or congen...

Clinical Trials [1909 Associated Clinical Trials listed on BioPortfolio]

Global Registry for COL6-related Dystrophies

The Global Registry for COL6-related dystrophies ( is a database for individuals who have been diagnosed with Bethlem Myopathy, Ullrich Congenital Muscular Dystrophy (UCM...

Congenital Muscle Disease Study of Patient and Family Reported Medical Information

The Congenital Muscle Disease Patient and Proxy Reported Outcome Study (CMDPROS) is a longitudinal 10 year study to identify and trend care parameters, adverse events in the congenital mus...

Efficacy and Safety of Tideglusib in Congenital Myotonic Dystrophy

This is a randomized, multicenter, double-blind, placebo-controlled, Phase 2/3 study of patients (aged 6 to 16 years) diagnosed with Congenital Myotonic Dystrophy (Congenital DM1).

Congenital Muscular Dystrophy Ascending Multiple Dose Cohort Study Analyzing Pharmacokinetics at Three Dose Levels In Children and Adolescents With Assessment of Safety and Tolerability of Omigapil (CALLISTO)

The purpose of the study is to establish the pharmacokinetic profile of omigapil in paediatric and adolescent patients with CMD and to evaluate the safety and tolerability of omigapil.

Pulmonary Function and Neuromuscular Disease

This study aims to describe the evolution of pulmonary function in 3 neuromuscular diseases : Duchenne muscular dystrophy, Werdnig-Hoffinann disease, congenital myopathy, monitored in Besa...

Medical and Biotech [MESH] Definitions

The smooth pebbled appearance of the CEREBRAL CORTEX with a thickened cortex and reduced and abnormal white matter, which results from migration of heterotopic neurons beyond the marginal zone into the leptomeninges through gaps in the external BASEMENT MEMBRANE. There is also enlarged ventricles, underdeveloped BRAINSTEM and cerebellum, and absence of the CORPUS CALLOSUM. These abnormalities occur as a syndrome without other birth defects (cobblestone complex) or in other syndromes associated with congenital MUSCULAR DYSTROPHY, often involving the eye, such as the Walker-Warburg Syndrome, Fukuyama congenital muscular dystrophy, and muscle-eye-brain disease.

Rare autosomal recessive lissencephaly type 2 associated with congenital MUSCULAR DYSTROPHY and eye anomalies (e.g., RETINAL DETACHMENT; CATARACT; MICROPHTHALMOS). It is often associated with additional brain malformations such as HYDROCEPHALY and cerebellar hypoplasia and is the most severe form of the group of related syndromes (alpha-dystroglycanopathies) with common congenital abnormalities in the brain, eye and muscle development.


A muscle protein localized in surface membranes which is the product of the Duchenne/Becker muscular dystrophy gene. Individuals with Duchenne muscular dystrophy usually lack dystrophin completely while those with Becker muscular dystrophy have dystrophin of an altered size. It shares features with other cytoskeletal proteins such as SPECTRIN and alpha-actinin but the precise function of dystrophin is not clear. One possible role might be to preserve the integrity and alignment of the plasma membrane to the myofibrils during muscle contraction and relaxation. MW 400 kDa.

A heterogenous group of inherited muscular dystrophy without the involvement of nervous system. The disease is characterized by MUSCULAR ATROPHY; MUSCLE WEAKNESS; CONTRACTURE of the elbows; ACHILLES TENDON; and posterior cervical muscles; with or without cardiac features. There are several INHERITANCE PATTERNS including X-linked (X CHROMOSOME), autosomal dominant, and autosomal recessive gene mutations.

Quick Search

DeepDyve research library

Relevant Topics

Congenital Diseases
Congenital conditions are those which are present from birth. They include structural deformities or loss of function in organs such as the <!--LGfEGNT2Lhm-->heart, gut or skeletal system. They can be corrected by <!--LGfEGNT2Lhm-->surgery, m...

Muscular Dystrophy
Muscular dystrophy is a group of degenerative inherited disorders causing muscle weakness and loss of muscle tissue. The different types are Becker muscular dystrophy, Duchenne muscular dystrophy, Emery-Dreifuss muscular dystrophy, Facioscapulohumeral mu...

Arthritis Fibromyalgia Gout Lupus Rheumatic Rheumatology is the medical specialty concerned with the diagnosis and management of disease involving joints, tendons, muscles, ligaments and associated structures (Oxford Medical Diction...

Searches Linking to this Article