Duchenne Muscular Dystrophy Disease

About Gene:

Duchenne muscular disease is a genetic disorder that results in severe, progressive muscle degeneration. As it is inherited in an X-linked recessive pattern, the disease primarily affects boys, although girls stand a 50% chance of being carriers and very rarely are afflicted by the condition. The disease is caused by mutations in the DMD gene. This gene encodes the protein dystrophin. Dystrophin is part of a protein complex that strengthens muscle fibres and protects them from injury. Mutations that render the DMD gene non-functional lead to muscles being more prone to damage, leading to progressive degeneration of muscle tissue and function and cardiomyopathy. The disease often occurs in people with known family history of the disease. It occurs in about out of every 3,600 male infants.

Number of Patients: 1

Disease Causing Genes:

DMD TGFB1 SPP1 CFTR HLA-B MMP2 IL17A SIRT1 CXCL12 HLA-A NR3C1 ADRB2 PARP1 YAP1 AGER MIF HSP90AA1 FGF2 FN1 GJA1 TIMP1 PROM1 FGFR1 CNR1 CD40 TGM2 TGFBR2 TIMP2 PRKAA1 HDAC2 TTN NOS1 PDGFB ACTN3 MIR206 CNR2 MIR214 MSTN HDAC4 TERF2 DTNBP1 COMP CAPN1 ITPR1 DYSF PYCARD XDH PLA2G6 MIR199A1 HSPG2 TERF1 DAG1 NFAT5 CAPN2 UTRN CKM LTBP4 HJV TRPV2 CASP4 GPC1 MIR199A2 ITGA7 TRIM32 EDN3 SGCG DTNA SNTA1 SDC3 MIR339 SYNM TNNI1 TNNI2 SNTB2 SNTB1 SSPN DOCK3 RAB40AL SYNC SNTG2 DYNLT5 PAMR1

Sign and Symptoms:

  1. Scoliosis
  2. Progressive muscle weakness
  3. Atrophy
  4. Hypertrophy of calf muscle
  5. Fatigue
  6. Difficulty in movement (climbing stairs, walking, etc)
  7. Cardiomyopathy
  8. Breathing difficulties
  9. Cognitive impairment
  10. Developmental delay

Diagnosis:

1.Creatine kinase blood test: Damaged muscles release creatine kinase- therefore elevated levels may indicate Duchenne Muscular Dystrophy. Levels can increase by 10 to 20 folds by age 2. 2.Genetic blood testing- Genetic tests are carried out on blood samples to screen for complete or near complete absence of the gene encoding for dystrophin-which can confirm diagnosis of DMD. 3.Muscle biopsy 4.Electrocardiogram 5.Lung monitoring test 6. Electromyography

Preventions:

Genetic counselling

Treatment:

There is no direct treatment for DMD. Treatments are symptomatic. Physicians may prescribe medications such as corticosteroids to delay onset of loss of muscle strength, delaying scoliosis, improving lung function and prolonging survival. ACE inhibitors/ beta-blockers can be prescribed early to prevent progression and delay onset of heart failure. Scoliosis and contractures can be treated by surgery. Other supportive treatment includes physical therapy, exercise, mobility aids, assisted ventilation, etc.