What are the other Names for this Condition? (Also known as/Synonyms)

• Gamma-Sarcoglycanopathy
• Limb-Girdle Muscular Dystrophy with Gamma-Sarcoglycan Deficiency Disorder
• Muscular Dystrophy, Duchenne-like

What is Limb-Girdle Muscular Dystrophy, Type 2C? (Definition/Background Information)

• Limb-Girdle Muscular Dystrophy Type 2C (LGMD2C) is a genetic condition that affects the voluntary muscles around the hips and shoulders. This condition belongs to a group of muscle disorders called limb-girdle muscular dystrophies, which are characterized by progressive loss of muscle bulk and symmetrical weakening of voluntary muscles
• Symptoms of Limb-Girdle Muscular Dystrophy Type 2C usually appear around 6-8 years of age, may be mild or severe, and can progress to loss of the ability to walk by 12-16 years. Symptoms may additionally include: enlargement (hypertrophy) of the calf muscle and tongue, diseases of the heart muscle (cardiomyopathy), and respiratory abnormalities
• Limb-Girdle Muscular Dystrophy Type 2C is caused by mutations in the SGCG gene and is inherited in an autosomal recessive manner
• Although there is no specific treatment or cure for Limb-Girdle Muscular Dystrophy Type 2C, there are ways to manage the symptoms. A team of doctors or specialists is often needed to figure out the treatment options for each person

(Source: Limb-Girdle Muscular Dystrophy, Type 2C; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

Who gets Limb-Girdle Muscular Dystrophy, Type 2C? (Age and Sex Distribution)

• Limb-Girdle Muscular Dystrophy, Type 2C is a rare congenital disorder affecting 1-9 individuals in a million
• The presentation of symptoms often occurs in childhood, between 6-8 years of age
• Both males and females may be affected
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Limb-Girdle Muscular Dystrophy, Type 2C? (Predisposing Factors)

• A positive family history may be an important risk factor, since Limb-Girdle Muscular Dystrophy, Type 2C can be inherited
• Children born to consanguineous parents may bear an increased risk of being born with LGMD2C

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Limb-Girdle Muscular Dystrophy, Type 2C? (Etiology)

• Limb-Girdle Muscular Dystrophy, Type 2C is caused by mutation(s) in the SGCG gene
• The condition is inherited in an autosomal recessive manner

Autosomal recessive inheritance: Autosomal recessive conditions are traits or disorders that occur when two copies of an abnormal gene have been inherited on a non-sex chromosome. If both parents have an autosomal recessive condition, there is a 100% likelihood of passing on the mutated genes to their children. If, however, only one mutant copy of the gene is inherited, the individual will be a carrier of the condition, but will not be present with any symptoms. Children born to two carriers, have a 25% chance of being homozygous dominant (unaffected), a 50% chance of being heterozygous (carrier), and a 25% chance of being homozygous recessive (affected).

What are the Signs and Symptoms of Limb-Girdle Muscular Dystrophy, Type 2C?

The signs and symptoms of Limb-Girdle Muscular Dystrophy, Type 2C may include:

• Calf muscle pseudohypertrophy
• Elevated serum creatine phosphokinase
• Flexion contracture
• Gowers sign
• Hyperlordosis
• Muscle fiber necrosis
• Muscular dystrophy
• Pneumonia
• Restrictive ventilatory defect
• Right ventricular dilatation
• Right ventricular hypertrophy
• Scoliosis
• Skeletal muscle atrophy

(Source: Limb-Girdle Muscular Dystrophy, Type 2C; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How is Limb-Girdle Muscular Dystrophy, Type 2C Diagnosed?

Limb-Girdle Muscular Dystrophy, Type 2C is diagnosed on the basis of the following information:

• Complete physical examination
• Thorough medical history evaluation
• Assessment of signs and symptoms
• Laboratory tests
• Imaging studies
• Biopsy studies, if necessary
• Molecular genetic testing to check for or confirm causative gene mutation(s)

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Limb-Girdle Muscular Dystrophy, Type 2C?

The complications of Limb-Girdle Muscular Dystrophy, Type 2C may include:

• Loss of the ability to walk (generally by 20 years of age, in severe cases)
• Crowding of organs in the chest cavity, leading to under-developed heart and lung tissue
• Low self-esteem and a sense of isolation
• Respiratory distress
• Abnormal heart function

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Limb-Girdle Muscular Dystrophy, Type 2C Treated?

There is no cure for Limb-Girdle Muscular Dystrophy, Type 2C, since it is a genetic condition. The treatment is usually given to manage the signs and symptoms and any complications that develop. The treatment methods may include:

• Avoiding obesity through nutrition and exercise regimens
• Physiotherapy
• Mechanical aids for mobility, which may include the use of canes, walkers, and wheelchairs
• Use of respiratory aids when necessary

How can Limb-Girdle Muscular Dystrophy, Type 2C be Prevented?

Currently, Limb-Girdle Muscular Dystrophy, Type 2C may not be preventable, since it is a genetic disorder.

• Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
• If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders

Regular medical screening at periodic intervals with tests and physical examinations are recommended.

What is the Prognosis of Limb-Girdle Muscular Dystrophy, Type 2C? (Outcomes/Resolutions)

• The prognosis of Limb-Girdle Muscular Dystrophy, Type 2C is dependent upon the severity of the signs and symptoms and associated complications, if any
• In severe cases, the condition can lead to loss of the ability to walk
• Generally, the prognosis is made on a case-by-case basis

Additional and Relevant Useful Information for Limb-Girdle Muscular Dystrophy, Type 2C:

Limb-Girdle Muscular Dystrophy, Type 2C is also known by the following names:

• Autosomal Recessive Duchenne-like Muscular Dystrophy, Type 1
• Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2C
• DMDA1 (Duchenne-like Muscular Dystrophy, Type 1)
• Duchenne-like Muscular Dystrophy, Type 1 (DMDA1)
• Limb-Girdle Muscular Dystrophy due to Gamma-Sarcoglycan Deficiency Disorder
• Maghrebian Myopathy
• Secondary Adhalin Deficiency Disorder
• Severe Childhood Autosomal Recessive Muscular Dystrophy, North African type

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/