What caused Duchenne Muscular Dystrophy
Mutated dystrophin gene at locus Xp21
Causes muscular dystrophy
Signs and symptoms of Duchenne Muscular Dystrophy
Patient fall frequently Fatigue Toe walking/difficulty walking Muscle weakness Muscle pseudohypertrophy Muscle fibrosis Positive Gowler's test
Investigations of Duchenne Muscular Dystrophy
DNA testing - confirms mutation of dystrophin gene
Creatine phosphokinase test - results show increased levels
Muscle biopsy - confirms mutation of dystrophin gene
Electromyography (EMG) - analyse muscle destruction
Treatment of Duchenne Muscular Dystrophy
No specific treatment
Prednisolone and Creatinine replacement may be considered
Patient wheelchair bound at ~12 years
Refer to occupational and physio-therapy
Patient and parent education and support as condition is very debilitating
Life expectancy of Duchenne Muscular Dystrophy
25-30 years
Complications of Duchenne Muscular Dystrophy
Scoliosis
Respiratory complications and increased risk of infections
Cardiomyopathy
Osteoporosis
What is Lesch-Nyhan syndrome
Rare X-linked recessive disorder that causes a build-up of uric acid in the body
Causes of Lesch-Nyhan syndrome
Deficiency of hypoxanthine-guanine phosphoribosyltransferase (HGPRT)
Signs and symptoms of Lesch-Nyhan syndrome
Behavioural problems Intellectual impairment Self-harming behaviour Poor muscle control Symptoms of gout
Investigations of Lesch-Nyhan syndrome
Bloods - FBC, U&Es, Creatinine, Uric acid, HGPRT
Radiology - Ultrasound scan of kidneys for radiolucent urate renal calculi
Conservative treatment of Lesch-Nyhan syndrome
Parent education
Medical treatment of Lesch-Nyhan syndrome
Allopurinol (to decrease uric acid levels)
Consider benzodiazepines and Baclofen for neurological and behavioural problems
Complications of Lesch-Nyhan syndrome
Gout
Renal calculi
Self harm