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​Symptoms and Signs – Differential Diagnosis of Myoclonus
• Ataxia-telangiectasia
• Benign familial
• CNS lesion (stroke, neoplasm)
• CNS trauma
• Epileptic myoclonus
• Friedreich’s ataxia
• Heavy metal poisoning
• Hepatic failure
• Huntington’s disease
• Hypoglycemia or severe hyperglycemia
• Hyponatremia
• Medications (e.g., tricyclics, levodopa)
• Parkinson’s disease
• Physiologic (e.g., exercise or anxiety induced)
• Post dialysis
• Post encephalitis
• Progressive supranuclear palsy
• Renal failure
• Wilson’s disease
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​Symptoms and Signs – Differential Diagnosis of Myoglobinuria
• Carbon monoxide poisoning
• Cysticercosis
• Drugs (narcotic and amphetamine toxicity)
• HIV infection
• Hyperthermia
• Hypothyroidism
• Muscle ischemia
• Polymyositis or dermatomyositis
• Severe trauma
• Toxoplasmosis
• Trichinosis
• Viral myositis
Myopathies, Infectious
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​Symptoms and Signs – Differential Diagnosis of Myopathies, Inflammatory
• Cimetidine, D-penicillamine
• Inclusion body myositis
• Mixed connective tissue disease
• Paraneoplastic syndrome
• Polyarteritis nodosa
• Polymyositis, dermatomyositis
• Sarcoidosis
• Scleroderma
• Sjögren’s syndrome
• Systemic lupus erythematosus (SLE), rheumatoid arthritis
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​Symptoms and Signs – Differential Diagnosis of Toxic Myopathies
• Acute muscle necrosis and myoglobinuria: statins, alcohol, cocaine
• Inflammatory: cimetidine, D-penicillamine
• Malignant hyperthermia: halothane, ethylene, others;succinylcholine
• Mitochondrial: zidovudine
• Myosin loss: nondepolarizing neuromuscular blocking agents; glucocorticoids
• Noninflammatory necrotizing or vacuolar: statins, chloroquinecolchicine
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​Symptoms and Signs – Differential Diagnosis of Inflammatory Myositis
INFECTIOUS
• Viral myositis: retroviruses (HIV, HTLV-1), enteroviruses (echovirus, coxsackievirus), other viruses (influenza, hepatitis A
and B, Epstein-Barr)
• Bacterial: pyomyositis
• Parasites: trichinosis, cysticercosis
• Fungi: candidiasis
IDIOPATHIC
• Granulomatous myositis (sarcoid, giant cell)
• Eosinophilic myositis
• Eosinophilia-myalgia syndrome
ENDOCRINE/METABOLIC DISORDERS
• Hypothyroidism
• Hyperthyroidism
• Hypercortisolism
• Hyperparathyroidism
• Hypoparathyroidism
• Hypocalcemia
• Hypokalemia
METABOLIC MYOPATHIES
• Myophosphorylase deficiency (McArdle’s disease)
• Phosphofructokinase deficiency
• Myoadenylate deaminase deficiency
• Acid maltase deficiency
• Lipid storage diseases
• Acute rhabdomyolysis
DRUG-INDUCED MYOPATHIES
• Alcohol
• D-Penicillamine
• Zidovudine
• Colchicine
• Chloroquine, hydroxychloroquine
• Statins
• Cyclosporine
• Cocaine, heroin, barbiturates
• Corticosteroids
NEUROLOGIC DISORDERS
• Muscular dystrophies
• Congenital myopathies
• Motor neuron disease
• Guillain-Barré syndrome
• Myasthenia gravis
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​Symptoms and Signs – Differential Diagnosis of Multiple Sclerosis (MS)
• Autoimmune: acute disseminated encephalomyelitis (ADEM), postvaccination encephalomyelitis
• Degenerative: subacute combined degeneration (vitamin B12 deficiency), inherited spastic paraparesis
• Infections: progressive multifocal leukoencephalopathy, Lyme disease, syphilis, HIV infection, human T-cell lymphotropic virus type 1 (HTLV-1), Whipple’s syndrome, expanded differential in immunocompromised patients
• Inflammatory: systemic lupus erythematosus (SLE), Sjögren’s syndrome, Behçet’s syndrome, vasculitis, sarcoidosis, celiac disease
• Inherited metabolic disorders: leukodystrophies
• Mitochondrial: Leber’s hereditary optic neuropathy; mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS)
• MS variants: recurrent optic neuropathy, neuromyelitis optica (Devic’s), acute tumor-like lesion (Marburg’s variant), Baló’s concentric sclerosis, myelinoclastic diffuse sclerosis (Schilder’s disease)
• Neoplasms: metastases, CNS lymphoma
• Vascular: subcortical infarcts, Binswanger’s disease
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​Symptoms and Signs – Differential Diagnosis of Microcephaly
• Syndromes: Down (21 trisomy), Edwards (18 trisomy), cri du chat (5p−), Cornelia de Lange, Rubinstein-Taybi, Smith-Lemli-Opitz
• Radiation
• Metabolic
• Meningitis/encephalitis
• Malnutrition
• Hypoxic-ischemic encephalopathy
• Hyperthermia
• Familial (autosomal recessive)
• Drugs: fetal alcohol, fetal hydantoin
• Congenital infections: cytomegalovirus (CMV), rubella,toxoplasmosis
• Autosomal dominant
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​Symptoms and Signs – Differential Diagnosis of Microcytosis
• Thalassemia trait or syndrome, other hemoglobinopathies
• Sideroblastic anemia
• Lead poisoning
• Iron deficiency
• Chronic renal failure
• Anemia of chronic disease
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​Symptoms and Signs – Differential Diagnosis of Micropenis
HYPOGONADOTROPIC HYPOGONADISM
• Kallmann’s syndrome: autosomal dominant; associated with hyposmia
• Prader-Willi syndrome: hypotonia, mental retardation, obesity,
small hands and feet
• Rud’s syndrome: hyposomia, ichthyosis, mental retardation
• de Morsier’s syndrome (septo-optic dysplasia): hypopituitarism,hypoplastic optic discs, absent septum pellucidum
HYPERGONADOTROPIC HYPOGONADISM
• Primary testicular defect: disorders of testicular differentiation or
inborn errors of testosterone synthesis
• Klinefelter’s syndrome
• Other X polysomies (i.e., XXXXY, XXXY)
• Robinow’s syndrome: brachymesomelic dwarfism, dysmorphic facies
PARTIAL ANDROGEN INSENSITIVITY
• Idiopathic
• Defective morphogenesis of the penis
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