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Limb Girdle Muscular Dystrophy (LGMD)

Clinical signs

This disease, which is called Limb Girdle Muscular Dystrophy (LGMD), is one of a heterogeneous group of muscular dystrophies. It is characterized by muscle weakness that commences in the waist and shoulder girdle muscles. This can be demonstrated especially when the patient is asked to get up from lying supine to standing without using his arms. The age of onset of the muscle weakness is between 12 and 28 years of age, and its rate of progression varies from case to case. The disease is common among Jews of Libyan origin, and in this group the progress of the disease is relatively slow.


The penetrance of the disease is usually full.

Inheritance pattern

Autosomal recessive.

What is the genetic defect?

The defect here is in a gene called dysferlin. This type of LGMD is very interesting because in Israel in Jews of North African (especially Libyan) origin, a unique mutation has been found that is common to all patients. This is 1624delG - a deletion of the base G (guanine) in position 1624 of the sequence of the gene.

The frequency of carriers of this mutation in people of Libyan origin in Israel has been found to be relatively high - about 1 in 10 of the normal healthy population. In Jews of North African origin (Libyan, Moroccan, etc.) a direct test can be carried out to look for the specific mutation.

Similarly, carriers of the defective gene can also be identified. See: Seeking common mutations responsible for a disease in an ethnic group - autosomal recessive disease.

What is the risk for an affected child when both parents are carriers?

The risk is 25% in every pregnancy. Other family members do not have a high risk (usually less than 1%); this can be determined within genetic counseling for each person individually according to their pedigree.

Are there prenatal tests that can test for this disease?

In families in which both partners have been found to be carriers and where the precise genetic defect has been defined, a specific, reliable genetic test can be performed on amniotic fluid cells or ">chorionic villi.

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Comments (1)

Monday, February 23, 2015 1:53 AM
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