Clinical Reasoning: A 10-year-old girl with muscle stiffness
| Autor: | Devin E Prior, Partha S. Ghosh |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
Mutation
Missense Osteochondrodysplasias Biceps Speech Disorders Myotonia Diagnosis Differential 03 medical and health sciences 0302 clinical medicine Recurrence Hand strength medicine Humans Myotonic Dystrophy Medical history 030212 general & internal medicine Exertion NAV1.4 Voltage-Gated Sodium Channel Child Hand Strength Relaxation (psychology) business.industry Anatomy Muscle stiffness musculoskeletal system Muscle Rigidity Cold Temperature body regions Exercise Test Female Neurology (clinical) medicine.symptom business human activities Extensor Digitorum Communis 030217 neurology & neurosurgery Myotonic Disorders Muscle contraction |
| Zdroj: | Neurology. 95:e773-e778 |
| ISSN: | 1526-632X 0028-3878 |
| Popis: | A 10-year-old girl presented with episodic muscle stiffness for 4 years. Her muscles stiffened and became difficult to move with exertion, such as her legs after 30 minutes of playing soccer and her hands while carrying grocery bags. Symptoms were also provoked by cold temperature, such as swimming in a cold pool. After eating ice cream, she had difficulty speaking. She sometimes had persistent muscle stiffness for days after an episode. The patient had normal development and no significant medical history. Her father had a history of leg stiffness after playing soccer that started in his teens. On examination, she had normal muscle bulk and tone, with Medical Research Council 5/5 strength throughout bilateral proximal and distal extremity muscles. With tight grip of the hand and closure of the eyes, the patient had delayed relaxation of finger flexors and ocular muscles. Percussion of the thenar muscles, extensor digitorum communis, biceps, and gastrocnemius also provoked sustained muscle contraction. Reflexes were 2+ and symmetric throughout and toes were downgoing. The remaining neurologic examination was unremarkable. |
| Databáze: | OpenAIRE |
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