Assessment
Questionnaire

Have a symptom?
See what questions
a doctor would ask.
 

What is Muscular phosphorylase kinase deficiency?

What is Muscular phosphorylase kinase deficiency?

  • Muscular phosphorylase kinase deficiency: A very rare genetic defect which affects muscles and causes rapid fatigue on exertion and muscle cramping and weakness.

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Muscular phosphorylase kinase deficiency as a "rare disease".
Source - Orphanet

Muscular phosphorylase kinase deficiency: Introduction

Types of Muscular phosphorylase kinase deficiency:

Broader types of Muscular phosphorylase kinase deficiency:

What causes Muscular phosphorylase kinase deficiency?

Causes of Muscular phosphorylase kinase deficiency: see causes of Muscular phosphorylase kinase deficiency

What are the symptoms of Muscular phosphorylase kinase deficiency?

Symptoms of Muscular phosphorylase kinase deficiency: see symptoms of Muscular phosphorylase kinase deficiency

Onset of Muscular phosphorylase kinase deficiency: From childhood to adulthood though most patients develop symptoms during adulthood.

Muscular phosphorylase kinase deficiency: Testing

Misdiagnosis: see misdiagnosis and Muscular phosphorylase kinase deficiency.

How is it treated?

Doctors and Medical Specialists for Muscular phosphorylase kinase deficiency: Medical Geneticist ; see also doctors and medical specialists for Muscular phosphorylase kinase deficiency.
Treatments for Muscular phosphorylase kinase deficiency: see treatments for Muscular phosphorylase kinase deficiency

Name and Aliases of Muscular phosphorylase kinase deficiency

Main name of condition: Muscular phosphorylase kinase deficiency

Other names or spellings for Muscular phosphorylase kinase deficiency:

muscle glycogenosis, X-linked, glycogen storage disease IXd, GSD IXd, GSD9D, muscle phosphorylase kinase deficiency, Glycogen Storage Disease 9d

 

By using this site you agree to our Terms of Use. Information provided on this site is for informational purposes only; it is not intended as a substitute for advice from your own medical team. The information on this site is not to be used for diagnosing or treating any health concerns you may have - please contact your physician or health care professional for all your medical needs. Please see our Terms of Use.

Home | Symptoms | Diseases | Diagnosis | Videos | Tools | Forum | About Us | Terms of Use | Privacy Policy | Site Map | Advertise