Neuromuscular

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NEUROMUSCULAR DISORDERS & ENDOCRINE DISEASE

Acromegaly
Adrenal
Carcinoid myopathy
Corticosteroid
Diabetes
Gonadal
  Dysgenesis
  Gynecomastia
  Hypogonadism
Insulinoma
Parathyroid
  Hyperparathyroid
  Hypoparathyroid
Thyroid
  Hyperthyroid
  Hypothyroid

From Bramwell: Atlas of Clinical Medicine

Myxedema



THYROID DISEASE

Hyperthyroid
  Myopathy
  Ophthalmopathy
  Other associated disorders
Hypothyroid
  Adult
  Childhood
  Other associated disorders

External link: Testing

From Bramwell: Atlas of Clinical Medicine


Hypothyroidism


Oppenheim 1894

Dercum 1894

Hyperthyroidism


From T Miller

Hyperthyroid


Hyperthyroid after treatment

Booth 1894

PARATHYROID DISEASE

Hypoparathyroidism


Hyperparathyroidism


ADRENAL & CORTICOSTEROIDS

Adrenal insufficiency
Corticosteroid-binding globulin deficiency
Corticosteroid myopathy
Corticosteroid withdrawal
Myosin loss myopathy
Nelson

Cushing 1912
Cushing's Syndrome
("Pluriglandular Syndrome")
Corticosteroid Potencies
Drug Potency
Gluco- Mineralo-
SHORT-ACTING
Hydrocortisone 1 1
Cortisone 0.8 0.8
INTERMEDIATE-ACTING
Prednisone 4 0.25
Prednisolone 4 0.25
Methylprednisolone 5 <0.01
Deflazacort 5.2 ?
Triamcinolone 5 <0.01
LONG-ACTING
Paramethasone 10 <0.01
Betamethasone 25 <0.01
Dexamethasone 30–40 <0.01

Corticosteroid myopathy
  • Precipitants
    • Drug-induced
      • Especially with 9-α-fluorinated corticosteroids
      • Rare with Prednisone, especially < 30 mg qd
      • Also see: Myosin-loss myopathies
    • Endogenous
      • Cushing's syndrome 11
        • 50% to 80% of cases
        • General clinical features: Each may only occur in minority of patients
          • Fat distribution
            • Abnormal in supraclavicular & temporal fossae
            • Facial rounding ("moon faces")
            • Obesity
          • Muscle weakness: Proximal
          • Skin
            • Purple striae: Wide (> 1 cm)
            • Bruising
            • Hirsutism
            • Wound healing: Poor
          • Linear growth in children
            • Decreased with continued weight gain
          • Behavioral
            • Decreased libido: 91%-100%
            • Psychiatric: Lethargy, Depression
          • Other endocrine
            • Impaired glucose tolerance/diabetes
            • Menstrual changes
          • Atherosclerosis
        • Diagnosis
          • Cortisol
            • 24 hour urine free cortisol
            • Salivary cortisol
          • Dexamethasone suppression test
          • ACTH measurement
        • Rule out
          • Low K+
          • Low PO4
        • Treatment
          • Optimal: Surgical removal of tumor
          • Medical: Ketoconazole
      • Ectopic ACTH production
  • Clinical
    • Muscle
      • Weakness: Proximal; Symmetric; Legs > Arms
      • Wasting
      • Myalgias
    • Systemic
      • Weight gain (90%)
      • Hypertension (85%)
      • Skin: Hirsutism; Fragile; Plethora
      • Osteopenia
      • Neuropsychiatric
      • Metabolic: Glucose intolerance (75%); Diabetes (20%); Hyperlipidemia (70%)
      • Gonadal dysfunction: Menstrual change (70%); Impotence (85%)
  • Lab
  • Mechanisms
    • Muscle protein catabolism: Increased
    • ? Other
  • Treatment: Reduce steroid dose

From Pincus Taft
Cushing's Syndrome

From Pincus Taft

Myosin loss myopathy


Nelson's syndrome: After total bilateral adrenalectomy
Adrenal insufficiency
  • Causes
  • Clinical
    • Muscle
      • Fatigue
      • Weakness: Mild; Occasionally respiratory
      • Cramps
      • Myalgias
      • Rhabdomyolysis
    • Systemic
      • Weight loss
      • Anorexia
      • Depression
      • Skin: Hyperpigmentation
    • Treatment
      • Cortisone (20 to 37.5 mg/day)
      • Fludrocortisone (0.05 to 0.1 mg),
      • Na+ intake (3 to 4 g/d)
  • Laboratory
    • Electrolyte disturbances
      • Low Na+
      • High Ca++
    • Anemia
    • Serum CK: May be mildly increased
    • Diagnosis
      • Cosyntropin test
        • Screening: Plasma cortisol 30 to 60 min after 250 μg IM or IV
        • Confirming
          • Plasma ACTH or aldosterone
          • Increment 30 min after 250 μg IM or IV
      • Adrenal imaging

From Bramwell: Atlas of Clinical Medicine

Addison's Disease

Fatigue syndrome with Corticosteroid-binding globulin deficiency

  SERPINA6 ; Chromosome 14q32.1; Dominant
Corticosteroid withdrawal

ACROMEGALY

  • Myopathy
    • Clinical
    • Laboratory
      • CK: Normal or mildly elevated
      • EMG: Myopathic (50% of acromegalic patients)
      • Muscle pathology: Usually insufficient to account for weakness
        • Nuclei: Enlarged; Prominent nucleoli
        • Lipofuscin & Glycogen: Increased
        • Muscle fiber size: Hypertrophy; Type II atrophy
        • Few necrotic fibers
        • Satellite cells: Proliferation & hypertrophy
        • May be normal
      • Rule out: Hypothyroidism, Hypoadrenalism, Diabetes
    • Physiology: Reduced force generation by muscle
    • Prognosis: Improves when growth homone levels → Normal
  • Neuropathy
    • Carpal tunnel syndrome 2
      • Frequency: Clinical 50% to 60%; NCV > 80%
      • Course
        • Improvement after levels of circulating growth hormone reduced  
      • MRI
        • Enlarged median nerve (Edema) in carpal tunnel
        • Pathology in symptomatic patients resolves after treatment
    • Cubital tunnel syndrome
      • Frequency: 21% to 50%
      • May occur early in disease course
      • Ultrasound imaging: Enlarged ulnar nerve proximal to elbow
      • Treatment: May improve with disease control
    • Polyneuropathy: Hypertrophic; Distal
      • Frequency: 1/3 Clinical; 2/3 Neurophysiological
      • Sensory: Pansensory loss; Paresthesias
      • Weakness: Small foot muscles
      • Ultrasound: Enlarged nerves (45%)
      • Nerve Pathology
        • Axonal loss: Large & Small myelinated axons
        • Hypertrophy: Endoneurium & Subperineurium
        • Onion bulbs: Some patients
  • Skeletal
    • Gigantism
      • Coarse features
      • Hands: Large
      • Feet: Large
      • Height: Increased
    • Trigger finger (25%): Transient locking of fingers in flexion
      • Proximal flexor tendon sheath at base of finger or thumb
        • Thickening & Constriction
      • A1 pulley thickening
  • Metabolic
    • Glucose intolerance
    • Protein synthesis: Increased
  • Skin
    • Hyperhydrosis
    • Oiliness/acne
    • Hypertrichosis/hirsutism
    • Hyperpigmentation
    • Acanthosis nigricans
    • Skin tags/fibromas
  • Diagnosis
    • Clinical features
    • Serum IGF-1: Increased
    • Oral glucose challenge
      • Inability to suppress serum growth hormone to < 2 ng/ml
  • Treatment
  • Hereditary acromegaly:
ACROMEGALY
Cushing: The Pituitary Body & its Disorders

Before disease

Disease onset

12 yrs of disease

17 yrs of disease

Square hand


Phalanges:
Tufting; Exostoses


Putnam

CALCIPHYLAXIS 6

  • Nosology
    • Calcific uremic arteriolopathy
    • Vascular calcification—cutaneous necrosis
  • Epidemiology
    • Chronic renal failure
      • Renal dialysis
        • 94% of Calciphylaxis patients are on hemodialysis
        • Incidence: 1% of all dialysis patients
      • Onset: ~ 3 years after dialysis; Range = 1 month to 12 years
    • Age: Mean 54 years
    • Female > Male: > 3:1
    • Caucasian more frequent
    • Serum testing
      • High serum phosphate: Increased risk
      • High alkaline phosphatase: Increased risk
      • Low serum albumin: Increased risk
    • Warfarin treatment: ? Increased Susceptibility
    • Diabetes: ? Increased Susceptibility
  • Clinical
    • Skin: Most patients; Usual presenting feature
      • Livido reticularis
      • Thickening
      • Painful necrotic lesions
        • Well demarcated erythema; Bullae; Ecchymoses
        • Proximal > Distal (68%)
        • Lower > Upper
        • Ischemia of digits
        • Lesions may cause Sepsis
    • Panniculitis: May begin at site of trauma, or injection
    • Muscle: Some patients
      • Pain
      • Proximal weakness
      • ± Rhabdomyolysis
      • Serum CK: Increased with myopathy
    • Associated features
      • Chronic renal failure
      • Hyperparathyroidism
      • Functional protein C deficiency
      • Corticosteroid treatment
      • Other disorders: Crohn’s disease; AIDS
    • Treatment
      • Parathyroidectomy
      • Rapid reduction of Ca++ & PO4
      • Control of systemic disease & wound infections
    • Prognosis
      • Mortality
        • 40% to 70%
        • 8x higher than controls
        • Commonly associated with infection of skin lesions
      • Worse with proximal skin lesions
  • Lab
    • PO4: High; > 5 mg/dL (67%)
    • Parathyroid hormone: High; 80%
    • X-Ray: Fine double lines suggesting calcified vessels
  • Pathology
    • Diagnosis: Biopsy skin, muscle
    • Vessels: Calcification & Narrowing
      • Small-to-medium sized vessels
      • Subintimal, medial & perivascular
      • Intimal proliferation
    • Multifocal tissue ischemia
    • Muscle
      • Patchy muscle fiber necrosis
      • Fiber size variability
      • Type 2 muscle fiber atrophy

Skin lesions in calciphylaxis




From Utah: K Flanigan & J Townsend
Calcium in vessel wall

Hypoglycemic Neuropathy 5



Gynecomastia & Neuromuscular


Gonadal Disorders



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References
1. JNNP 2000;68:681-2
2. Ann Int Med 2000;133:197-201
3. Semin Neurol 2000;20:43-54
4. Muscle Nerve 2000;23:1891-1894
5. Acta Neuropathol 2001 (On-line)
6. Lancet 2001;358:1115-1116; Kidney Int 2001; 60:324-332
7. Eur J Neurol 2003;10:87-90
8. Ann Intern Med 2005;142:310
9. Arq Neuropsiquiatr 2004;62:154-157
10. Endocr Res 2005;31:171-175,
11. American Journal of Medicine 2005;118:1340-1346, NEJM 2017;376;1451-1459

8/22/2021