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Participant 162


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Female, age 9, with brain abnormalities (abnormal cerebellum morphology, cerebellar atrophy), stiffness of the legs (spastic paraplegia) and muscle fiber disease (myopathy)

Date of Report

Jun 18, 2020

Description

The participant was born after a pregnancy complicated by bleeding at 20 weeks and delivered by c-section due to fetal distress at 40 weeks. Her parents became concerned when she was 2 months old because she had low muscle tone. Her head was also leaning to one side (congenital muscular torticollis). She smiled at 2 months, babbled as in infant, and had her first words before 1 year old. At 9 months old, she was found to have delayed gross and fine motor development. She sat unsupported at 20 months and crawled at 3 years old. She first started using a wheelchair around 3 years old.

Before she was 1 year old, the participant was found to have myopathy, which was later confirmed by a muscle biopsy. At 4 years old, she was found to have brain abnormalities (abnormal cerebellum morphology, cerebellar atrophy). She also has tight heel cords and lack of coordinated movement (dysmetria). Her hearing and vision have been evaluated and are normal.

The participant is currently in 3rd grade. She is able to not able to walk independently, but she can walk with a walker and uses a power chair for longer distances. She currently receives physical, occupational and hippo therapy (also called equine-assisted therapy). She can write with a pencil, and she types when she gets fatigued. The participant’s language skills have developed on time, but she has speech articulation difficulties. She is very social and gets along with everyone. She loves painting, math, and school.

Symptoms / Signs
  • Delayed gross motor development
  • Delayed fine motor development
  • Lack of coordinated movement (dysmetria)
  • Impaired ability to do rapid, alternating movements (dysdiadochokinesis)
  • Brain abnormalities (abnormal cerebellum morphology, cerebellar atrophy)
  • Speech articulation difficulties
  • Neck twisted to one side (congenital muscular torticollis)
  • Hyperextensibility (finger joints, elbow)
  • Muscle contractions (adductor longus contractures)
  • Muscle fiber disease (myopathy)
  • Muscle tone abnormalities (proximal muscle weakness, neck muscle weakness, lower limb hypertonia, muscular hypotonia of the trunk)
  • Stiffness of legs (spastic paraplegia)
  • Tightened muscles of legs, hips, and pelvis (spastic diplegia)
  • Damaged nerves (sensorimotor neuropathy)
  • Achilles tendon contracture
  • Rocker bottom foot
Current Treatments
  • Ankle foot orthotics
  • Hippotherapy
  • Occupational therapy
  • Physical therapy
Prior Treatments
Considered treatments
  • Botulinum toxin (botox) for Achilles contractures
Previously Considered Diagnoses
  • Hereditary spastic paraplegia
Other Photographs
Genetic Variants of Interest

Clinicians and researchers are investigating the following genetic change to see if it is causing the participant’s symptoms.

Gene
Inheritance Pattern
Position
Transcript
DNA Change
Protein Change
AD, de novo
Chr16:2499369
NM_001761.2
c.1305C>A
p.C435X
Contact

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