digplanet beta 1: Athena
Share digplanet:

Agriculture

Applied sciences

Arts

Belief

Business

Chronology

Culture

Education

Environment

Geography

Health

History

Humanities

Language

Law

Life

Mathematics

Nature

People

Politics

Science

Society

Technology

Congenital muscular dystrophies is autosomal recessively inherited diseases which are a group of heterogeneous disorders.[1] Characterised by the muscle weakness which is present at birth and the different changes on muscle biopsy that ranges from myopathic to overtly dystrophic due to the muscle biopsied and the age at which the biopsy takes place.[2]

Signs and Symptoms[edit]

Most infants with CMD will display some progressive muscle weakness, although there can be different degrees and symptoms of severeness of progression. The weakness is indicated as hypotonia, or lack of muscle tone, which can make an infant seem unstable. Later, infants and toddlers may be slow with their motor skills; such as rolling over, sitting up or walking, or may not even reach this milestones in life. Some of the more rarer forms of CMD can result in significant learning disabilities, or mental adjotmnet. For more information see the table of 20 different types of congenital Muscular dystorphies.[3]

20 Different types of Congenital Muscular dystrophies[edit]

CMD with adducted (drawn inward) thumbs, ophthalmoplegia (paralyzed eye muscles) and intellectual disability.[edit]

A rare form of CMD causing permanent shortening of the toe joints and lack of muscle tone which can delay walking due to being weak also paralysis of eye muscles and intellectual disability which effects their way of processing information.[4]

CMD with cardiomyopathy[edit]

First year of a newborn begins with weakness, which affects motive skills, walking can be accomplished in adolescence, deformity and rigidity of joints the joints, neck and spine; progressive cardiomyopathy at the ages of 5 to 12; cardiac rhythm abnormalities. [4]

CMD with central nervous system atrophy and absence of large myelinated fibers in peripheral nervous system.[edit]

At the beginning of the newborn period, the issues the infant receives are; poor muscle tone, weak motor function; respiratory failure in a few infants; major parts of the brain are formed smaller; deformity and rigidity joints.[4]

CMD with cerebellar atrophy (diminished size of thecerebellum, a part of the brain involved in motor control)[edit]

Unprogressive form of CMD at the beginning period by seven months which causes weakness, poor muscle tone, delayed in motor milestones, lack of coordination in motive skills, difficulty speaking, involuntary eye movements and intellectual disability.[4]

CMD with desmin inclusions (abnormal accumulations of the muscle protein desmin in some muscle fibers)[edit]

At the beginning a progressive weakness and low muscle tone at birth or during early infancy; small muscles; cardiac abnormalities in some; which can then progress to spinal curvatures at 8-14 years also deformity and rigidity joints, respiratory impairment.[4]

CMD with integrin alpha 7 mutations[edit]

At birth low muscle tone, have weakness, perhaps walk at age of 2-3years old; respiratory involvement with disease progression.[4]

CMD with joint hyperlaxity (abnormally flexible joints)[edit]

Weakness and deformity and rigidity joints present at birth, poor muscle tone, slowly progressive; can be walking at 1-3 years but might progress into a wheelchair later somewhere between teens and 30s; reduced respiratory capacity may have a lack of progression, abnormal flexibility in others, spinal curvature possible, still remain with normal intelligence.[4]

CMD with familial junctional epidermolysis bullosa[edit]

Some of the symptoms at birth and though out the infants life are weakness or poor muscle tone, with skin blistering, skin blisters with injury and heat, slowly progressive, by age 10 they need a wheelchair, elbow deformity, respiratory impairment, cardiomyopathy, deformity of the brain, treatment with 3,4-diaminopyridine, which increases signal transmission from nerve to muscle.[4]

CMD with muscle hypertrophy (enlargement of muscles)[edit]

Weak muscle tone starting in first weeks of the infant, unassisted when sitting but would have not accomplished walking, some muscles maybe enlarged, especially calf muscles; other muscles maybe small, such as the shoulder area; deformity and rigidity in some joints the cognitive function usually normal might suffer from a mild intellectual disability or speech problems my exist. [4]

CMD with muscle hypertrophy and respiratory failure[edit]

At birth the infant will have weakness with involvement of the diaphragm and respiratory failure, can be walking at 1.5 to 2.5 years old, a good percentage of muscle enlargement; deformity in ankles, spinal rigidity in about 50 percent and will have normal intelligence.[4]

CMD with muscle hypertrophy and severe intellectual disability[edit]

Around the beginning of 5 months the infant will have some issues with low muscle tone and weakness, some muscles could be enlarged and global developmental could be delay, intellectual disability; deformity of ankles and elbows.[4]

CMD with myasthenic syndrome[edit]

Rare form of CMD by time of birth can cause weakness, lack of muscle tone, small muscles, slowly progressive, respiratory involvement possible, most children and adults are able to walk and have normal intelligence.[4]

CMD with (early) spinal rigidity[edit]

Present at birth to 1 year can have poor muscle tone and weakness, reduced respiratory capacity, muscles could be deformed, beginning ages 3-7 stabilization or slow decline spinal rigidity, limited mobility to flex the neck and spine, spinal curvature beginning ages 4-12 and progressing, deformity and rigidity joints, minor cardiac abnormalities, normal intelligence.[4]

CMD with spinal rigidity and lamin A/C abnormality[edit]

With in the first year the infant is weak, there is respiratory involvement, rigid spine, curved spine, curved feet, cardiac rhythm abnormalities in some, premature aging in some and abnormalities of fatty tissue in some infants.[4]

CMD with spinal rigidity and selenoprotein deficiency[edit]

Present at birth is weakness in the muscles, developmental delay, reduced respiratory capacity, fatigue, skin abnormalities, hearing loss, rigid spine.[4]

CMD with structural abnormalities of mitochondria (energy-producing subunits of cells)[edit]

Weakness which is present at birth, poor muscle tone with late walking, loss of muscle tissue, cardiomyopathy, intellectual disability, mitochondria which are enlarged and have an abnormal structure.[4]

Fukuyama CMD[edit]

In western countries this type of CMD is rare but is common in Japan. The effects this disease has on infants is spectrum of severity, weakness in muscle tone within first year, some infants may achieve some walking, have deformity and rigidity joints, spinal curvatures, seizures in 50%, eye involvement and intellectual disability.[4]

Merosin-deficient CMD[edit]

Present at birth weakness in muscle tone, spectrum of severity; some may learn to walk at age 2-3 years, spinal curvature, deformity and rigidity joints, respiratory impairment, intelligence can often be normal; seizures in about 20% all these are the issues that infants face with this type of CMD.[4]

Merosin-positive CMD[edit]

Some forms of merosin-positive CMD are: Early spinal rigidity, CMD with muscle hypertrophy, CMD with muscle hypertrophy and respiratory failure, CMD with myasthenic syndrome, and Ullrich CMD.[4]

Ullrich CMD[edit]

Present at birth is weakness, poor muscle tone, will have some deformity and rigidity joints, some joints will have excessive flexibility, spinal rigidity, curvature, respiratory impairment, soft skin, normal cardiac function and normal intelligence.[4]

See also[edit]

muscular dystrophies

Ullrich Congenital Muscular Dystrophy

Fukuyama Congenital Muscular Dystrophy

Stories of families trying to deal with their child that has Congenital Muscular Dystrophy:

  1. High-risk world of rare genetic diseases: Research efforts improving
  2. Mum tries to raise $30k to give son Fletcher hope of recovery from congenital muscular dystrophy

References[edit]

  1. ^ Mercuri, Eugenio; Sewry, Caroline; Brown, Susan C.; Muntoni, Francesco (2002-01-01). "Congenital muscular dystrophies". Seminars in Pediatric Neurology 9 (2). doi:10.1053/spen.2002.33802. 
  2. ^ Klein, Andrea; Clement, Emma; Mercuri, Eugenio; Muntoni, Francesco (2008-01-01). "Differential diagnosis of congenital muscular dystrophies". European Journal of Paediatric Neurology 12 (5). doi:10.1016/j.ejpn.2007.10.002. 
  3. ^ "Types of CMD Chart Congenital Muscular Dystrophy". Muscular Dystrophy Association. Retrieved 2015-09-04. 
  4. ^ a b c d e f g h i j k l m n o p q r s t < "Types of CMD Chart Congenital Muscular Dystrophy". Muscular Dystrophy Association. Retrieved 2015-09-04. 

Original courtesy of Wikipedia: http://en.wikipedia.org/wiki/Congenital_muscular_dystrophy — Please support Wikipedia.
This page uses Creative Commons Licensed content from Wikipedia. A portion of the proceeds from advertising on Digplanet goes to supporting Wikipedia.
6551 videos foundNext > 

Overview of Congenital Muscular Dystrophy by Dr. Jim Collins

Stronger than Congenital Muscular Dystrophy

Jake is Stronger than Congenital Muscular Dystrophy.

Jack has congenital muscular dystrophy

Jack has congenital muscular dystrophy (dystroglycanopathy subtype). Here is a video recap put together by his mother, Ann, for his 10th birthday.

Ally Bruener Muscular Dystrophy Doc

This is my first mini-documentary. Ally Bruener explains how she juggles life while having a congenital muscle disease.

Congenital Muscular Dystrophy

Sarah McCain and Cathy Hackett.

Development of potential treatments for the congenital muscular dystrophies

Held by Dr Reghan Foley, National Institutes of Health, Bethesda, Maryland USA.

Get Connected: Congenital Muscular Dystrophy

Do you or somebody you know have Congenital Muscular Dystrophy? If so, visit our website at www.curecmd.org Learn more about how we can help you, get ...

Congenital muscular dystrophy (Medical Condition)

Symptoms, risk factors and treatments of Congenital muscular dystrophy (Medical Condition) Congenital muscular dystrophy is muscular dystrophy that is ...

Sarah

Sarah talks about having Ullrich congenital muscular dystrophy (collagen VI myopathy) from England.

Investigating Congenital Muscular Dystrophy From Bench to Bedside)

Dr. Sweta Girgenrath from Boston University shares an update on her research in LAMA2 (Merosin Deficient/MDC1A) Muscular Dystrophy.

6551 videos foundNext > 

469 news items

 
Business Wire (press release)
Fri, 05 Feb 2016 04:56:15 -0800

... of rare diseases including all forms of DMD and Becker's Muscular Dystrophy (BMD), as well as other progressive, life threatening neuromuscular disorders, including Congenital Muscular Dystrophy, ALS, Spinal Muscular Dystrophy and Myasthenia Gravis.

Mintpress News (blog)

Mintpress News (blog)
Fri, 05 Feb 2016 07:23:42 -0800

Walker-Warburg syndrome (WWS) is a rare type of congenital muscular dystrophy characterized by brain and eye abnormalities and muscle disease, particularly weakness and atrophy of voluntary muscles. Mutations in different genes lead to different forms ...

Halstead Gazette

Halstead Gazette
Tue, 02 Feb 2016 01:39:21 -0800

The youngster, of Clacton, has the rare muscle-wasting disease congenital muscular dystrophy which is gradually weakening him. Dean has been a retained firefighter in Halstead for 18 years, and enjoyed it so much he took a full time position as a ...

East Anglian Daily Times

East Anglian Daily Times
Mon, 25 Jan 2016 10:18:27 -0800

Dean, 42, is a full-time firefighter at Clacton fire station where he works with colleague Rob Newman – whose son Stanley, three, has an incurable muscle wasting disease called Congenital Muscular Dystrophy. Clacton fire station has already raised ...

Muscular Dystrophy News

Muscular Dystrophy News
Fri, 05 Jun 2015 08:22:30 -0700

Merozyne Therapeutics AB recently initiated a project with the goal of developing a pharmaceutical treatment to address laminin alpha2 chain-deficient congenital muscular dystrophy (MDC1A) through supporting the research that Madeleine Durbeej-Hjalt ...
 
Nasdaq
Sun, 17 Jan 2016 22:00:00 -0800

Santhera develops Raxone® in two additional indications, Duchenne muscular dystrophy (DMD) and primary progressive multiple sclerosis (ppMS), and omigapil for congenital muscular dystrophy (CMD), all areas of high unmet medical need. For further ...

Gazette

Gazette
Sun, 10 Jan 2016 23:07:30 -0800

A FIREFIGHTER will stretch his legs to the limit in a gruelling 62-mile run to support a youngster battling a rare disease. Dean Woodburn, 42, is preparing to take on the daunting Stour Valley Path 100k Ultra Run later this year. The 62-mile race route ...

Neurology Advisor

Neurology Advisor
Thu, 02 Apr 2015 14:11:01 -0700

The American Academy of Neurology and the American Association of Neuromuscular and Electrodiagnostic Medicine have released new evidence-based guidelines for the evaluation, diagnosis, and management of congenital muscular dystrophy.
Loading

Oops, we seem to be having trouble contacting Twitter

Support Wikipedia

A portion of the proceeds from advertising on Digplanet goes to supporting Wikipedia. Please add your support for Wikipedia!

Searchlight Group

Digplanet also receives support from Searchlight Group. Visit Searchlight