Clinical Reasoning: A 10-year-old girl with muscle stiffness

Neurology. 2020 Aug 11;95(6):e773-e778. doi: 10.1212/WNL.0000000000010026. Epub 2020 Jun 17.

Authors

Devin E Prior¹, Partha S Ghosh²

Affiliations

¹ From the Department of Neurology (D.E.P.), Lahey Clinic, Burlington; and Department of Neurology (P.S.G.), Boston Children's Hospital, MA.
² From the Department of Neurology (D.E.P.), Lahey Clinic, Burlington; and Department of Neurology (P.S.G.), Boston Children's Hospital, MA. partha.ghosh@childrens.harvard.edu.

PMID: 32554772
DOI: 10.1212/WNL.0000000000010026

No abstract available

Publication types

Case Reports

MeSH terms

Child
Cold Temperature / adverse effects
Diagnosis, Differential
Exercise Test
Female
Hand Strength
Humans
Muscle Rigidity / etiology*
Muscle Rigidity / genetics
Mutation, Missense*
Myotonia / diagnosis
Myotonia / etiology*
Myotonia / genetics
Myotonic Disorders / diagnosis*
Myotonic Disorders / genetics
Myotonic Dystrophy / diagnosis
NAV1.4 Voltage-Gated Sodium Channel / deficiency
NAV1.4 Voltage-Gated Sodium Channel / genetics*
Osteochondrodysplasias / diagnosis
Recurrence
Speech Disorders / etiology

Substances

NAV1.4 Voltage-Gated Sodium Channel
SCN4A protein, human