X-linked recessive disorders that may by useful Flashcards Preview

Medicine Phase 2a Other (Infectious diseases etc) > X-linked recessive disorders that may by useful > Flashcards

Flashcards in X-linked recessive disorders that may by useful Deck (13)
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1
Q

What caused Duchenne Muscular Dystrophy

A

Mutated dystrophin gene at locus Xp21

Causes muscular dystrophy

2
Q

Signs and symptoms of Duchenne Muscular Dystrophy

A
Patient fall frequently
Fatigue
Toe walking/difficulty walking
Muscle weakness
Muscle pseudohypertrophy
Muscle fibrosis
Positive Gowler's test
3
Q

Investigations of Duchenne Muscular Dystrophy

A

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

4
Q

Treatment of Duchenne Muscular Dystrophy

A

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

5
Q

Life expectancy of Duchenne Muscular Dystrophy

A

25-30 years

6
Q

Complications of Duchenne Muscular Dystrophy

A

Scoliosis
Respiratory complications and increased risk of infections
Cardiomyopathy
Osteoporosis

7
Q

What is Lesch-Nyhan syndrome

A

Rare X-linked recessive disorder that causes a build-up of uric acid in the body

8
Q

Causes of Lesch-Nyhan syndrome

A

Deficiency of hypoxanthine-guanine phosphoribosyltransferase (HGPRT)

9
Q

Signs and symptoms of Lesch-Nyhan syndrome

A
Behavioural problems
Intellectual impairment
Self-harming behaviour
Poor muscle control
Symptoms of gout
10
Q

Investigations of Lesch-Nyhan syndrome

A

Bloods - FBC, U&Es, Creatinine, Uric acid, HGPRT

Radiology - Ultrasound scan of kidneys for radiolucent urate renal calculi

11
Q

Conservative treatment of Lesch-Nyhan syndrome

A

Parent education

12
Q

Medical treatment of Lesch-Nyhan syndrome

A

Allopurinol (to decrease uric acid levels)

Consider benzodiazepines and Baclofen for neurological and behavioural problems

13
Q

Complications of Lesch-Nyhan syndrome

A

Gout
Renal calculi
Self harm