A family with autosomal recessive generalised myotonia with Herculean appearance

M K Sinha; R N Chaurasia; R Verma

A family with autosomal recessive generalised myotonia with Herculean appearance

J Assoc Physicians India. 2011 Feb:59:120-2.

Authors

M K Sinha¹, R N Chaurasia, R Verma

Affiliation

¹ Department of Neurology, Chhatrapati Shahuji Maharaj Medical University, Lucknow, U.P., India.

PMID: 21751653

Abstract

A 28-year-old male had history of stiffness in limb muscles, with hypertrophy of most muscle groups and both action and percussion myotonia. We report a very interesting rare family of brothers and sister of myotonia congenita, conforming to autosomal recessive transmission (Becker's variety) with Herculean appearance.

Publication types

Case Reports

MeSH terms

Adult
Chloride Channels / genetics*
DNA / genetics
Electromyography
Genes, Recessive
Humans
Hypertrophy / pathology
Male
Muscle Weakness / etiology*
Muscle Weakness / physiopathology
Muscle, Skeletal / pathology
Muscle, Skeletal / physiopathology
Mutation
Myotonia Congenita / diagnosis*
Myotonia Congenita / drug therapy
Myotonia Congenita / genetics*
Pedigree
Phenytoin / therapeutic use
Polymerase Chain Reaction
Sequence Analysis, DNA
Treatment Outcome

Substances

Chloride Channels
Phenytoin
DNA