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Muscular dystrophy (MD) (Clinical
presentation (Clumsy walking,…
Muscular dystrophy (MD)
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Pathophysiology
Mechanism
Degenerative weakness of specific muscle groups
Proximal muscles affected >distal
Deposition of fat and connective tissue
Types
Duchenne (DMD)
X-linked recessive or de novo
Non-functional dystrophin protein
Onset in childhood (1-6y)
Becker (BMD)
X-linked recessive or de novo
Partially functional dystrophin protein
Onset late childhood/early teens (11y)
Facioscapulohumoral
AD inheritance, onset 12-14y
Weak face, arms, shoulders, soliosis, legs
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Diagnosis
Examination
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Neuro
Pseudohypertrophy of calf muscles (due to wasting of thighs)
Gower's sign (can't stand up directly from lying, turn prone and using hands to climb up legs)
Waddling, clumsy gait
Investigations
Bloods
FBC, U+E, LFT
CK (HIGH; mildly raised in female carriers)
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History
PC/HPC
Difficulty standing, clumsy walking,
delayed motor milestones, difficulty breathing
POH
Scans, bloods, growth,
gestation, delivery, weight, complications
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SH
Living arrangements, school/nursery,
occupation, smoking, alcohol
Management
Conservative
Information, advice, support
Genetic counselling for families (incl antenatal diagnoses)
MDT care (neuro, physio, nurses)
Walking support (physiotherapy, knee-ankle-foot orthoses)
Medical
Oxygen therapy
Indication: OSA, resp failure
MOA: overnight CPAP, home ventilation
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Complications
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Psychological
Depression, anxiety
Learning difficulties
Orthopedic
Contractures, scolioisis osteoporosis
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Prognosis
BMD is milder, presents later,
similar life expectancy to normal
Shortened lifespan with DMD (30y),
often wheelchair bound
Differentials
Autoimmune
Myasthenia gravis
Polymyositis, dermatomyositis
Congenital/genetic
Charcot-Marie Tooth
Congenital muscular dystrophies
Congenital myopathies
Myotonic disorder e.g. dystrophical myotonica
Metabolic
metabolic myopathy e.g. glycogen storage diseases, lipid storage diseases, mitochondrial diseases