Muscle Disease Neurology Rotation Lecture Series Last Updated

Muscle Disease Neurology Rotation Lecture Series Last Updated

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 Gower Sign Diagnosis

Dystrophin is found in skeletal muscle, smooth muscle, cardiac muscle and brain May have cognitive impairment All develop cardiomyopathy May develop intestinal pseudo-obstruction 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

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