Recent Advances in Neurology 2018 Up for 7 Months: Other Symptoms - - PowerPoint PPT Presentation

2/16/2018 1

Recent Advances in Neurology 2018

Challenging Cases John Engstrom, M.D. February 16, 2018

71 yo Man-Difficulty Holding His Head Up for 7 Months: Other Symptoms

• Fatigue with neck extension-mild pain
• No weakness or numbness in arms and legs
• Unstable going from sitting to standing, but

legs are strong

• No bowel or bladder symptoms
• No fever, sweats, weight loss, SOB,

stiffness of limbs, cramps/muscle spasms

71 yo Man-Difficulty Holding His Head Up for 7 Months: General Examination

• Chin on chest deformity present
• Neck supple-no stiffness
• No lateral collis or anterocollis
• Nl thoracic kyphosis and lumbar lordosis
• No palpation tenderness over the spine
• No Lhermitte’s sign

71 yo Man-Difficulty Holding His Head Up for 7 Months: Neuro Exam

• MS, CN, Sensory normal
• Motor: Neck extensors 3-; neck flexors 5

– Nl tone and no rest tremor – No UMN signs; reflexes symmetric; – Nl limb coordination and gait

• Power: deltoids, biceps, triceps, IP,

hamstrings, quadriceps, distal hand/leg muscles normal bilaterally

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Q1-Which medical condition is associated with head drop?

• A. Upper cervical myelopathy

B. Anterocollis C. Bent spine syndrome

• D. Parkinson’s disease

E. All of the above

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3% 0% 90% 5% 2%

Head Drop (aka “Head Ptosis”)

• Upper cervical myelopathy
• Dystonia-anterocollis
• Assoc with PD, thoracic kyphosis, or both
• Orthopedic-Larsen syndrome
• With camptocormia (bent spine syndrome)
• As a neuromuscular disease

Camptocormia

• Camptocormia (Bent Spine Syndrome)-

anterior curvature of thoracolumbar spine

– Orthopedic-Scheuermann’s kyphosis – Idiopathic – Parkinsonism – Motor neuron disease – Myopathies

• Camptocormia and head drop can co-exist

71 yo man with Head Drop: Cervical Spine Flexion

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71 yo man with Head Drop: Cervical Spine-Attempted Extension 71 yo man with Head Drop: Axial T2 C4: Attn Paraspinal Muscles 71 yo man with Head Drop: Axial T2 C7-T1: Attn Paraspinal Muscles

• A. Motor neuron disease

B. Myasthenia gravis C. Polymyositis

• D. Muscular dystrophy

E. All fo the above

Q2-Which neuromuscular condition is associated with head drop?

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5% 3% 88% 2% 2%

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DDX of Head Drop as a Neuromuscular Disease

• Motor Neuron disease (e.g.-ALS)
• Proximal Polyneuropathy (e.g.-CIDP)
• Neuromuscular Junction Dz (e.g.-MG)
• Myopathies

– Inflammatory-Polymyositis, IBM – Endocrine-Cushing syndrome, hypothyroidism – Dystrophy-LGMD, FSH, a myotonic dystrophy – Idiopathic

71 yo Man with Head Drop-Lab Studies

• CK 67, AChRAb -, ESR 2, CRP 3.2-all nl
• EMG-NCV/needle EMG studies nl except

right lower cervical paraspinal muscles

– No fibs or positive waves – Short duration, low amplitude motor units with early recruitment – Myopathy-no muscle membrane instability

Cervical Paraspinal Muscle Biopsy Results

• Variation muscle fiber size-sugg dystrophy
• Increased central nuclei
• No perivascular or vascular inflammation
• No significant mitochondrial abnormality
• No degenerating or regenerating fibers
• No inflammation
• Not a treatable myopathy

Normal Muscle biopsy-H and E

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Head Drop: Cervical paraspinal muscle biopsy-H and E Head Drop: Cervical paraspinal muscle biopsy-NADH Head Drop: Cervical paraspinal muscle bx-Electron Microscopy

71 yo Man with Head Drop: Further Inquiry

• Athena-Muscular Dystrophy Adv Eval

– 33 dystrophy genes negative – 3 mutations (2 likely benign, 1 unknown signif) – 1 heterozygous mutation in Titin

• Titin-”giant” muscle protein that regulates

the length of the striated muscle thick filament with 363 coding exons

– Assoc with 9 myopathies inclu LGMD type 2J – Adult recessive proximal muscular dystrophy

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Titin Shortens During Contraction- Stretches Myosin Thick Filament Q3-What Rx option is least attractive for management of head drop?

• A. Hard collar

B. Soft collar C. Physical therapy

• D. Cervical spinal fusion

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18% 73% 3% 6%

71 yo Man with Head Drop: Initial Symptom Management

• Hard Collar
• Soft Collar
• Physical Therapy
• Adapted brace found online
• Initially declined to seriously consider

surgery

71 yo Man with Head Drop: Return to Clinic with Questions

• What is my prognosis?
• Will other muscles deteriorate?
• Specific subtype of muscular dystrophy?
• How does this information influence the

decision to have surgery at this point?

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71 yo Man with Head Drop: Surgery

• Decision 2/17 for surgery to improve QOL

– Limits lateral neck motion post-op understood – Cannot live well looking at the ground – Deferred until his wife’s affairs settled

• Surgery 8/30/17-two stage procedure

– C3-T2 posterior screw and rod fixation – C5-T1 ACDF

71 yo Man with Head Drop: Post-Surgery Outcome in the Patient’s Words: What Has Surgery Done to Your Self-Image?

• What are the limitations of the surgery?
• How do you interpret and mange the long

term risks?

• What has surgery change your self-image

and improved your quality of life?

Take Home Points: Head Drop

• Axial weakness is best considered as a form
• f proximal weakness in neurologic Ddx
• Can be neurologic or non-neurologic origin
• Can be disabling both in terms of physical

and psychosocial function

• In the context of long term management,

patients (and physicians) are allowed to change their minds regarding management