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Satoyoshi syndrome

Disease Summary
Associated Targets (0)

Explore Associated Targets
Mondo Description Satoyoshi syndrome is a rare syndrome characterized by progressive, painful, intermittent muscle spasms. These muscle spasms usually start between 6-15 years old. Other symptoms of the syndrome may include diarrhea and an inability of the digestive tract to absorb certain foods, especially carbohydrates (malabsorption). People affected by Satoyoshi syndrome may also have loss of hair on the head and body (alopecia universalis), short stature, and skeletal abnormalities. Women with Satoyoshi syndrome may not have a menstrual cycle (amenorrhea). In all published cases, only one person in a family has Satoyoshi syndrome. This is even true when the person with Satoyoshi syndrome comes from a large family. Satoyoshi syndrome seems to be more common in Japan. The exact cause of the syndrome is unknown, but some researchers think it may be an autoimmune disease. Satoyoshi syndrome can be diagnosed when a doctor sees symptoms that are consistent with the syndrome. The diagnosis can be confirmed by a variety of laboratory tests. Treatment for Satoyoshi syndrome includes medication to suppress the immune system.
Mondo Term and Equivalent IDs
MONDO:0010922:  Satoyoshi syndrome
GARD:0000160: 
MESH:C536616: 
Orphanet:3130: 
SCTID:763630007: 
UMLS:C1833454: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Parents
Tbio

3689

Tchem

853

Tdark

624

Tclin

316

Tbio

2492

Tchem

471

Tdark

416

Tclin

158

Tbio

14

Tchem

4

Tclin

1

Children
Target Novelty (Tin-x)
No novelty measurements found