Participant 127

Participant 127

This 25-year-old man was seen for multiple joint contractures. He presented at age 3 wtih a swelling on his forehead that disappeared soon after. Later, he developed a swelling in the back of his neck that calcified leading to cervical rigidity.

Date of Report

Description

This 25-year-old man was seen for multiple joint contractures. He presented at age 3 wtih a swelling on his forehead that disappeared soon after. Later, he developed a swelling in the back of his neck that calcified leading to cervical rigidity. Later still, other areas of hsi body become involved, including his right arm and right leg, both scapulae, and more recently his posterior left thigh, which has now limited his ability to bend his knee. The typical course of the disease starts with muscle pain followed by swelling that then calcifies. Currently he has limited joint mobility (he can move his ankles,  wrists and to a limited extent his elbows). He has a typical hallux deformity since early childhood. There are no other affected family members. 


Symptoms / Signs

  • On physical exam, his spine is stiff (he cannot bend) and his neck can move only slightly and in a lateral direction.
  • He can only open his mouth a little (calcified masseter muscles).
  • There is reduced flexion in his elbows (he can flex his right elbow at 10 and his left at 90), cannot flex or extent his right knee at all, and only slightly his left knee.
  • He has a calcified right triceps and lateral left quadriceps, and an almost absent right calf muscle.
  • His halluxes are malformed.
  • He can still walk with crutches but he is very stiff.

Current Treatments

  • Intermittent corticoids and physical therapy

Prior Treatments

  • Intermittent corticoids and physical therapy

Considered treatments

  • Intermittent corticoids and physical therapy

Previously Considered Diagnoses

  • Fibrodysplasia ossificans progressiva (FOP)

Genetic Variants of Interest

  • ACVR1/ALK2 gene

Siblings, age & gender

Twin 25-year-old brother


Contact

If this participant sounds like you or someone you know, please contact Wilhelm Foundation at info@wilhelmfoundation.org


Bio

A is a 25-year-old man twin (brother unaffected). He seems to be a very smart man but had to drop out of school because of his condition. Although he had a tough start in life, A runs a small business and has been a leader and a model for his peers.


More pictures 

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