• ABOUT MUSCULAR DYSTROPHY

    Not a disease but a genetic disorder that might occur even as a fresh mutation.

  • TYPES OF MUSCULAR DYSTROPHY

    Only organization in India that cares for all types of muscular dystrophy patients

  • Clinical Trials

    Facilitating access to clinical trials and research updates

  • DIAGNOSIS

    Are you aware of the type of your muscular dystrophy? Do the genetic test.

  • PREVENTION

    Don’t pass muscular dystrophy on to generations. You can stop it!

An over view of a few major types of Muscular Dystrophies

Type
Variants
Age of Onset
Impact on quality of life
Carrier risk?
Remarks
Becker Muscular Dystrophy (BMD)
This is a less severe form of DMD
Late childhood OR Adolescence
  • Moderately severe
  • BMD is similar to DMD but allows the voluntary muscles to function better than they do in DMD.
  • The heart muscle, however, can be affected similarly to the way it is in DMD.
  • Each son born to a woman with a dystrophin mutation has a 50% chance of having BMD.
  • Each of her daughters has a 50% chance of being a carrier (BMD carriers are at risk for cardiomyopathy)
  • Girls are not usually affected by BMD.
  • Children above 10 years of age must undergo Cardiac evaluations once in a year at least.
Congenital (CMD)
MDC1A, MDC1C, MDC1D, MDC1B
Collagen VI,
Integrin 7 & 9 Alpha
FCMD & WSS  SEPN1, LMNA, SYNE-1, CHKB
At birth or early infancy
  • Severe
  • Some forms may cause intellectual disability. Progressive muscle weakness, fixed joints, deformity & movement restriction
  • Spinal rigidity
  • Delay in reaching motor mile stones (sitting or standing etc.)
  • Feeding & breathing difficulties
  • Parents carry a single copy of the disease causing mutation
  • Each sib of an individual with autosomal recessive CMD has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier.
  • Once an at-risk sib is known to be unaffected, the chance of his/her being a carrier is 2/3.
  • If a CMD patient reproduces, all of the offspring are obligate carriers.
 
  • Also referred to as, ‘floppy baby’
  • Males & females are affected.
Duchene Muscular Dystrophy (DMD)
Dystrophin gene
Childhood (as early as 3 years of age)
  • Varied from Most severe to severe
  • A pre-schooler with DMD may seem clumsy and fall often.
  • Children have trouble climbing stairs, getting up from the floor or running.
  • By school age, children may walk on their toes or the balls of their feet with a slightly waddling gait, and fall frequently. To try to keep their balance, they may stick out their bellies and pull back their shoulders. Children also have difficulty raising their arms.
  • Many children with DMD begin using a wheelchair sometime between ages 7 and 12.
  • Weakened respiratory muscles make it difficult to cough, leading to increased risk of serious respiratory infection. A simple cold can quickly progress to pneumonia.
  • Headaches, mental dullness, difficulty concentrating or staying awake, and nightmares are symptoms of poor respiratory function.
  • The damage done by DMD to the heart can become life-threatening.
 
  • It is possible for a family with no history of DMD to suddenly have a son with the disease.
  • Mother of a DMD child must undergo carrier test/pre-natal as appropriate before opting for next baby.
  • Girls born with a DMD child must also undergo carrier analysis. They will have 50% chance of passing it on to next generation.
  • Maternal aunts of a DMD child also must undergo carrier analysis.
  • Girls are not usually affected by BMD.
  • Children above 10 years of age must undergo Cardiac evaluations once in a year at least.
  • About 1/3rd of boys with DMD have some degree of learning disability, although few have serious mental retardation.
Emery Dreifus Muscular Dystrophy
 
 
 
 
 
Facioscapulohumeral Muscular Dystrophy (FSHD)
 
 
 
 
 
Myotonic Dystrophy (DM)
 
 
 
 
 
Oculopharyngeal Muscular Dystrophy (OPMD)
 
 
 
 
 

Limb Girdle Muscular Dystrophy (LGMD): The LGMDs are classified into type 1 or 2 depending on how they are inherited (see ‘how is LGMD inherited below’). Type 1 LGMDs are inherited in what is called an ‘autosomal dominant’ pattern (with rare exceptions) and are much less common than the type 2 LGMDs which are inherited in an ‘autosomal recessive’ pattern. They are further classified using letters depending on the gene alteration that causes it. Below is a table describing ten of the more common types of LGMD.

LGMD type

Gene affected

Age of onset

Breathing usually affected?

Heart usually affected?

Comments

1A

myotilin

Adult

no

yes

- very rare
- mutations in this gene also cause myofibrillar myopathy
- speech and swallowing difficulties common

1B

lamin A/C

5 to 20 years

yes

yes

- mutations in this gene also cause Emery-Dreifuss muscular dystrophy and congenital muscular dystrophy
- usually slow progression
- contractures common

1C

caveolin 3

Any age

no

no

- may have weakness in distal muscles (feet, ankles, calves, hands and wrists) and ‘rippling muscle disease’
- cramps and muscle pain after exercise are common
- usually slow progression

2A

calpain 3

Early teens usually, can range from 2 to 50 years of age

no

no

- a common form of LGMD worldwide
- not usually very rapidly progressive
- joint contractures may be present

2B

dysferlin

15-25 usually (variable)

no

no

- usually slow progression
- muscle pain and swelling in calves can be present

2C, 2D, 2E, 2F (sarco-glycanopathies)

gamma, alpha, beta or delta sarcoglycan

Usually in childhood

yes

yes

- rate of progression of the condition is extremely variable
- joint contractures and scoliosis may be present

2I

FKRP

10 to 20 years (may be earlier or later, with a range from two to 40 years).

yes

yes

- common in the UK and Northern Europe
- rate of progression of the condition is extremely variable
- joint contractures may be present

For further information/clarification/assistance, please contact: info@mdfindia.org



Contact Us

Muscular Dystrophy Foundation India

Address : Thilagar Street, Thasildhar Nagar, Melamadai Road
Anna Nagar, Madurai-625 020

Land mark: Near Varasithi Vinayakar Temple
Bus stop: Suguna Store, Anna Nagar

Mobile:0999 43 40 121

Email : info@mdfindia.org