limb-girdle muscular dystrophy

Limb-girdle muscular dystrophy encompasses a large number of rare disorders.

At ten he was diagnosed with limb-girdle muscular dystrophy.

When limb-girdle muscular dystrophy begins in childhood the progression appears to be faster and the disease more disabling.

Based on its cytogenetic location, this gene is considered as a candidate gene for limb-girdle muscular dystrophy.

It is associated with limb-girdle muscular dystrophy type LGMD2K.

DYSF is also associated with Limb-Girdle muscular dystrophy type 2B.

In its most common form, Limb-girdle muscular dystrophy causes progressive weakness that begins in the hips and moves to the shoulders, arms, and legs.

Caveolin-3 has been implicated in the development of certain types of muscular dystrophy (Limb-girdle muscular dystrophy).

CAPN3: Calpain 3 (limb-girdle muscular dystrophy type 2A)

Common symptoms of limb-girdle muscular dystrophy are muscle weakness, myoglobinuria, pain, myotonia, cardiomyopathy, elevated serum CK, and rippling muscles.

- Limb-Girdle Muscular Dystrophy type 1A (LGMD1A)

Myotilin mutations cause a form of limb-girdle muscular dystrophy, and mutations in myopalladin cause an inherited form of heart disease (dilated cardiomyopathy).

The results of a Phase I clinical trial of gene therapy for limb-girdle muscular dystrophy type 2C were published in the journal Brain in January 2012.

The trial's participants included people afflicted with Facioscapulohumeral muscular dystrophy, Becker's muscular dystrophy, and Limb-girdle muscular dystrophy.

These dystrophies are collectively termed dysferlinopathy, and include Limb-girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi muscular dystrophy 1 (MMD1).

Limb-girdle muscular dystrophy or Erb's muscular dystrophy is an autosomal class of muscular dystrophy that is similar but distinct from Duchenne muscular dystrophy and Becker's muscular dystrophy.

A defect in the DYSF gene, located on chromosome 2p12-14, results in either of two types of muscular dystrophy; Miyoshi myopathy (MM) and Limb-girdle muscular dystrophy type 2B (LGMD2B).

Mutations identified in this gene lead to interference with protein oligomerization or intra-cellular routing, disrupting caveolae formation and resulting in Limb-Girdle muscular dystrophy type-1C (LGMD-1C), HyperCKemia, distal myopathy or rippling muscle disease (RMD).

GeneReviews/NCBI/NIH/UW entry on Dysferlinopathy including Miyoshi Distal Myopathy (Miyoshi Myopathy), Limb-Girdle Muscular Dystrophy Type 2A (LGMD2A)

Dysferlinopathy is characterized by progressive muscle wasting and is most often clinically diagnosed as Limb-girdle muscular dystrophy type 2B (LGMD2B) or Miyoshi muscular dystrophy 1 (MMD1; a type of distal muscular dystrophy), depending on the initial pattern of muscle involvement at diagnosis.