Muscle Disease
Neurology Rotation Lecture Series
Last Updated by Lindsay Pagano
Summer 2013
Case Presentation
A 5 year old male is brought to your office because his mother noted that he has
difficulty with activities that other children in his Kindergarten class can do well.
Sat up at 10 months, began to walk at 18 months
Now cannot stand or hop on one foot
Runs awkwardly, fatigues easily, difficulty walking up stairs
Behind in learning the alphabet, colors and numbers
Term SVD, no complications
No FHx of neurologic disease
PE: normal except for
Musculoskeletal:
Mild lordosis
Bilateral heel cord tightness
Mildly enlarged calves
Neuro:
Mild diffuse hypotonia
Trouble lifting neck from table; BLE > BUE weakness
DTRs 1+ diffusely
Differential? Diagnosis?
Duchenne Muscular Dystrophy
X-linked recessive, 1:3300 males
Xp21, dystrophin gene mutation (2/3 familial, 1/3 new mutations)
Typically presents at 5 years old
difficulty running
abnormal gait (waddling)
historic motor delay
PE
Musculoskeletal
lumbar lordosis
calf pseudohypertrophy (muscle fibers replaced with fat
and connective tissue
Neurologic
Neck flexor weakness
Symmetric and proximal UE and LE weakness, LE > UE
Diffuse hypotonia, DTRs 1+ diffusely
DMD, continued
Other system involvement
Dystrophin is found in skeletal muscle, smooth muscle, cardiac muscle and brain
May have cognitive impairment
All develop cardiomyopathy
May develop intestinal pseudo-obstruction
Gower Sign
Diagnosis
CK elevated (10x upper limit normal)
Muscle biopsy (absent dystrophin)
Genetic/DNA testing
+/- EMG/NCV
Prognosis
Supportive care
+/- steroids
Wheelchair bound by 13 years old
Death in 20s from respiratory or cardiac failure
Becker Muscular Dystrophy
Same pathogenesis as DMD
Except for inframe mutations for BMD, out of frame for DMD
Slower course
Present between 5-15 years old
Wheelchair bound after 16 years old
Live through their 30s-40s
Less severe course, less likely to have
Cognitive impairment
Cardiac disease
Contractures
Scoliosis
GI issues
CK elevated (5x upper limit of normal)
Muscle biopsy with decreased dystrophin
Congenital Muscular Dystrophy
AR, heterogeneous group of disorders, classic or syndromic
Presents at birth or in infancy
Presents with
Weakness
Poor feeding
Respiratory difficulties
Neuro exam
Hypotonia
Diffuse weakness
Other findings
Arthrogryposis
+/- CNS involvement
+/- cardiac involvement
Diagnosis
CK elevated
Muscle biopsy consistent with myopathy or dystrophic process
Congenital Myotonic Dystrophy
> 1000 CTG repeats in the DMPK gene, 19q13.3 (anticipation), AD
Mom is typically the affected parent (check her grip!)
Poor fetal movement, polyhydramnios
Feeding and respiratory difficulties, cognitive
impairment, developmental delay
Neuro PE:
Facial diplegia
Hypotonia
Decreased DTRs
Other PE:
Joint deformities, from clubfoot to arthrogryposis
No clinical or EMG myotonia until 2 years of age
Genetic testing
SMA
See the hypotonia lecture!
PREP question
A 6 year old girl presents to the emergency department with a facial
rash, fatigue and muscle pain. She has been previously healthy.
On PE, you note an erythematous rash over her cheeks and eyelids, and
papules over her knuckles. Her muscles are tender to palpation. With
encouragement, her grip strength is normal, but her strength seems diminished on
shoulder abduction. She has difficulty standing from a seated position.
Of the following, the MOST likely cause for this childs symptoms is:
A. Dermatomyositis
B. Duchenne muscular dystrophy
C. Polymyositis
D. Systemic lupus erythematosus
E. Viral myositis
A. dermatomyositis
Dermatomyositis
Inflammatory myopathy
Initial symptoms is typically rash, but weakness may also present/go unnoticed initially
(symmetric and proximal)
Skin: periorbital violaceous erythema (heliotrope rash), Gottron papules over DIPs,
violaceous discoloration over extensor surfaces of knee and elbows
Evaluate for cardiac involvement
Labs: CK (may be normal initially), ESR (may be normal initially), ANA with speckled
pattern, lymphopenia
Imaging: fat-suppression MRImuscle
Tx: immunosuppression
Regarding the other choices:
B. Duchennes: Xlinked, no rash
C. polymyositis: no derm findings
D. SLE: does not have this kind of rash
E. viral myositis: does not have this kind of rash
