1 / 9

CASE PRESENTATION

CASE PRESENTATION. 9 year old boy well until 4 years, was able to walk and run Now presents with Difficulty in walking and frequent fall for the last 5 years and getting up awkwardly from lying down or sitting position,needing support of railings while climbing up and down stairs.

carmine
Download Presentation

CASE PRESENTATION

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript


  1. CASE PRESENTATION • 9 year old boy well until 4 years, was able to walk and run Now presents with • Difficulty in walking and frequent fall for the last 5 years and getting up awkwardly from lying down or sitting position,needing support of railings while climbing up and down stairs. • He was taking some medicine but had no relief.

  2. Duchenne muscular dystrophy • Duchenne muscular dystrophy (DMD) is the most common childhood form of muscular dystrophy. DMD usually becomes clinically evident when a child begins walking. Patients typically require a wheelchair by age 10 to 12 and die in their late teens or early 20s.

  3. Duchenne muscular dystrophy(DMD), is inherited in an X-linked recessive pattern, meaning that the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes, and is thus considered sex-linked.

  4. Age at onset: two to six years; symptoms include general muscle weakness and wasting (Gower's sign is present); affects pelvis, upper arms, and upper legs; eventually involves all voluntary muscles; survival beyond 20 years is rare. • Duchenne muscular dystrophy is caused by mutation of the gene for the dystrophin protein

  5. Signs and symptoms • Progressive Muscular weakness • Poor Balance ,Frequent Falls ,Walking Difficulty ,Waddling Gait ,Limited Range of Movement • Calf Pain • Muscle Contractures • Respiratory Difficulty • Drooping Eyelids (ptosis) • Gonadal atrophy • scoliosis (curvature of the spine) • Inability to walk • Duchenne muscular dystrophy (DMD) is the most common childhood form of muscular dystrophy. DMD usually becomes clinically evident when a child begins walking. Patients typically require a wheelchair by age 10 to 12 and die in their late teens or early 20s.

  6. STAGES OF PROGRESSION OF DMD • Initial Phase • Transitional Phase • Loss of ambulation phase • End of life phase

  7. INVESTIGATIONS • S.CPK high. • CXR • .ECG and 2 D Echocardiography may suggests early cardiomyopathy • EMG –suggestive of muscle disease –no evidence of denervation • PCR-intragenic deletion identified at Xp21 locus • Muscle biopsy may demonstrate low DYSTROPHIN level • The diagnosis of muscular dystrophy is based on the results of a muscle biopsy.

  8. MANAGEMENT • No curative treatment • Physiotherapy mainstay of treatment • Provision of appropiate orthoses • Nutritional management to avoid undernutrition/obesity • Glucocorticoid (PREDNISOLONE) • Early detection and treatment of respiratory and cardiac complications reduces morbidity,improves quality of life and prolongs survival • Gene therapy experiments to restore dystrophin to the skeletal and cardiac muscle

More Related