Muscular Dystrophy - Paediatric Neurology

Muscular Dystrophy

·        Not common.  Most common is Duchenne: 1 in 3,500

·        X linked recessive, females usually asymptomatic.  1/3 new mutations

·        Caused by failure to make dystrophin (in muscle cell membrane) 

·        Present with muscle weakness that is slowly progressive. Gower‟s sign: proximal weakness ® climb up their legs with hands to stand up 

·        Often mild intellectual handicap (IQ 85)

·        Wheel chair bound by 12.  ¯Respiratory function and ­scoliosis ® terminal bronchopneumonia

·        Diagnosis: genetic tests, CK markedly elevated, myogenic pattern on EMG

·        Treatment: supportive only

Acute Weakness in Childhood

·        Consider:

o   Guillian Barre (LP shows elevated protein but normal cells), post-infectious (eg mycoplasma), often sensory involvement, treat with Ig

o   Transverse Myelitis: post-infectious, distinct spinal level, responds to steroids