What is Visceral Myopathy?

Visceral myopathies are life-threatening genetic diseases in which smooth‑muscle dysfunction disrupts essential motility — hindering the movement of air and nutrients through the bowel, impairing bladder emptying, affecting uterine contraction, and altering normal circulatory motion.

What is Visceral Myopathy?

What is Visceral Myopathy?

Visceral smooth muscle is a crucial component of the walls of hollow organs like the stomach, intestines, bladder, uterus and the circulatory system. This specialized smooth muscle has unique properties that distinguish it from other muscle types and facilitate those systems’ critical and robust, involuntary, synchronized dilation and contraction.

A Spectrum of Severity

Disease severity varies, but VM is always life-limiting — it profoundly compromises quality of life and is usually life-threatening. Diagnosis often isn't reached until after birth.

A Spectrum of Severity

Disease severity varies, but VM is always life-limiting — it profoundly compromises quality of life and is usually life-threatening. Diagnosis often isn't reached until after birth.

A Spectrum of Severity

Disease severity varies, but VM is always life-limiting — it profoundly compromises quality of life and is usually life-threatening. Diagnosis often isn't reached until after birth.

MMIHS (megacystis-microcolon-intestinal hypoperistalsis syndrome)

The most debilitating form, causing severe bowel dysfunction, microcolon (reduced intrauterine colon growth), and bladder-emptying defects requiring catheterization. Children who survive pregnancy with MMIHS often die early in childhood.

MMIHS (megacystis-microcolon-intestinal hypoperistalsis syndrome)

CIPO (chronic intestinal pseudo-obstruction)

Occurs when the bowel is the primary organ affected and microcolon is absent.

CIPO (chronic intestinal pseudo-obstruction)

Occurs when the bowel is the primary organ affected and microcolon is absent.

CIPO (chronic intestinal pseudo-obstruction)

Occurs when the bowel is the primary organ affected and microcolon is absent.

What Causes It

VM is caused by rare genetic mutations affecting smooth muscle or nerve cytoskeletal proteins. While sometimes inherited (autosomal dominant), it's most often a de novo mutation — roughly 73% of infants with the most common variant, ACTG2, have no family history of the condition.

Managing Visceral
Myopathy

Whether you’re a parent, caregiver, or patient, a VM diagnosis can feel overwhelming. Explore resources available to you and your family to help manage life with Visceral Myopathy — one day at a time.

You are not alone.

What is Visceral Myopathy?

What is Visceral Myopathy?

What is Visceral Myopathy?

What Causes It

Managing VisceralMyopathy

Managing VisceralMyopathy

Managing Visceral
Myopathy

Managing Visceral
Myopathy