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Symptoms and Signs – Differential Diagnosis of Myotonia
• Autosomal dominant disease
• Inflammatory myopathies (polymyositis)
• May be autosomal dominant or recessive (two distinct varieties)
• Metabolic muscle diseases
• Motor neuron disease
• Muscular dystrophies
• Myasthenic syndromes
• Myotonia congenita (Thomsen’s disease)
• Paramyotonia congenita
• The disease is limited to muscles and causes hypertrophy and stiffness after rest. Muscle function normalizes with exercise. There is no weakness. Symptoms are exacerbated by exposure to cold.
• Weakness and stiffness of facial muscles and distal upper extremities, especially or exclusively on cold exposure
• Autosomal dominant disease
• Inflammatory myopathies (polymyositis)
• May be autosomal dominant or recessive (two distinct varieties)
• Metabolic muscle diseases
• Motor neuron disease
• Muscular dystrophies
• Myasthenic syndromes
• Myotonia congenita (Thomsen’s disease)
• Paramyotonia congenita
• The disease is limited to muscles and causes hypertrophy and stiffness after rest. Muscle function normalizes with exercise. There is no weakness. Symptoms are exacerbated by exposure to cold.
• Weakness and stiffness of facial muscles and distal upper extremities, especially or exclusively on cold exposure
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