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Duchenne muscular dystrophy (DMD) is a neuromuscular condition with a prevalence of 1 in 3,500 male births that is caused by a mutation in the dystrophin gene. Becker muscular dystrophy (BMD) is another form of muscular dystrophy that impacts 1 in every 30,000 male births. Like DMD, BMD is caused by a mutation in the dystrophin gene. The mutation causes the patient to produce a shorter version of the dystrophin protein that does not function properly.
Limb-girdle muscular dystrophy type 2b (LGMD2b) is caused by a mutation in the DYSF gene, which codes for a protein called dysferlin. Dysferlin is found in the sarcolemma, a membrane that surrounds muscle fibers in the body. The protein helps repair the sarcolemma and may also play roles in inflammation and in forming new muscle fibers. It has a prevalence of about 7.4/1,000,000.
Limb-girdle muscular dystrophy type 2g (LGMD2g) is caused by a mutation in the TCAP gene. The gene codes for telethonin, a protein that helps to regulate the assembly of muscle cells. LGMD2g has an estimated prevalence of 0.040/1,000,000.
Limb-girdle muscular dystrophy type 2i (LGMD2i) results from mutations in the FKRP gene. This gene carries the code for fukutin-related protein, which is found throughout the body but especially in the brain, heart muscles, and skeletal muscles. FKRP helps add sugars to alpha-dystroglycan, which is a protein that protects muscles during the cycle of contraction and relaxation and helps move nerve cells in the brain during early stages of development. Due to the mutation, the FKRP protein cannot add the sugars, so alpha-dystroglycan does not function properly. This disease has a prevalence of around 4.48/1,000,000.
Adenylosuccinate synthase 1 (ADSSL1) is a gene that codes for an enzyme in skeletal muscle that aids in the production of adenosine monophosphate (AMP). AMP is a precursor to adenosine triphosphate (ATP), an energy-carrying molecule that is used for many processes in the body. Mutations in this gene cause the condition ADSSL1 gene related myopathy, which has a prevalence of less than 1 in 1,000,000.
Spinocerebellar ataxia type 3 (SCA3) is caused by a mutation in the ATXN3 gene, which codes for the enzyme ataxin-3. Ataxin-3 is found in cells throughout the body and is involved in the process that destroys and removes damaged or extra proteins. It is believed that ataxin-3 is also involved in transcription, the first stage of protein synthesis. The disease has a prevalence of 1 to 5 in 100,000 people.
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