X-linked recessive disorders that may by useful Flashcards
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
