Participant 126

Participant 126

She presented in clinic for difficulty with walking and stiff legs. Medical history includes normal pregnancy and birth, and delay in sitting. She never stood until she started physical therapy.

Date of Report

Description

She presented in clinic for difficulty with walking and stiff legs. Medical history includes normal pregnancy and birth, and delay in sitting. She never stood until she started physical therapy. Later she was able to take a few steps but soon after she lost this ability. Her mother reports that she has normal speech and cognition. She responds appropriately to commands and performs some household work including sweeping the floor.


Symptoms / Signs

  • On exame, she has limited speech and the few words she has are slurred.
  • Eye movements are slow with divergent strabismus, more marked on the left.
  • She has weakness in all 4 limbs, greater in the lower limbs where it was assessed from 2/5 to 1/5 whereas elbow flexor and extensor strength are approximately 4/5.
  • Reflexes are brisk throughout, with clonus in ankles (sustained on the left side).
  • Positive Babinski was present bilaterally.
  • She had joint stiffness with a degree of contracture flexion in her knees. She also has scoliosis and pes cavus. She showes mild atrophy in the hypothenar region of hands (lateral exterior) and a bilateral depression in the dorsal part of 4th and 5th digits. She is currently unable to walk. 
  • There seem to be no sensory, vision, or hearing impairments.
  • HTLV-1 negative.
  • The brain CT was normal.

Current Treatments

  • Baclofen and Physical therapy

Prior Treatments

  • Unknown

Considered treatments

  • Baclofen and Physical therapy

Previously Considered Diagnoses

  • Spastic paraplegia

Genetic Variants of Interest

  • SPG panel testing was negative. Extensive WES data analysis did not identify any variant. Clinical WES or WGS is being considered.

Siblings, age & gender

Two affected sisters (14 and 8 years old), one affected brother (12 years old), two unaffected sisters (21 and 4 years old) and one sister has died and did not show symptoms.


Contact

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


Bio

D is a 17-year old girl, born in Bamako in Mali. She is a joyful girl and brings happiness in her family. She helps her mother with some household activities.


More pictures 

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