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Participant 107


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Male, age 56 with lower motor neuron disease, muscle weakness, and muscle twitching (fasciculations)

Date of Report

Feb 07, 2019

Description

The participant was healthy and very active until he started to notice differences in his athletic ability in his 20s. He first developed muscle weakness in his hand and then muscle twitching (fasciculations) and cramps in his arms. An EMG showed lower motor neuron disease and a muscle biopsy identified shrinking of skeletal muscles (skeletal muscle atrophy).

Currently the participant has difficulty walking and requires wheelchair assistance. Some of his other symptoms include double vision (diplopia), weakness of the foot and ankle (foot dorsiflexor weakness), sudden muscle jerks (myoclonus), difficulty swallowing (dysphagia), and narrowing of the cervical spine.

 Environmental Exposures

The participant suffered several concussions (3-10) while playing sports at a young age. These concussions were accompanied by temporary loss of consciousness. In addition, he has an extensive history of immunizations and received the MMR vaccine multiple times due to traveling overseas and military service. Throughout his life, the participant has been exposed to herbicides, pesticides, as well as insecticides and spent time working in demolition and construction of grain bins.

Symptoms / Signs
  • Muscle weakness
  • Difficulty walking
  • Sudden muscle jerks (myoclonus)
  • Shrinking of skeletal muscle (skeletal muscle atrophy)
  • Muscle twitching (fasciculations)
  • Muscle cramps
  • Abnormal muscle and nerve test (lower motor neuron disease identified on EMG)
  • Abnormal lower motor neuron morphology
  • Double vision (diplopia)
  • Difficulty swallowing (dysphagia)
  • Narrowing of cervical spine
  • Weakness of foot and ankle (foot dorsiflexor weakness)
  • Elevated levels of creatine phosphokinase in the blood (elevated serum creatine phosphokinase)
Current Treatments
Prior Treatments
  • Lorazepam – anxiety
Considered treatments
Previously Considered Diagnoses
  • Amyotrophic Lateral Sclerosis (ALS)
  • Kennedy’s disease
  • Spinal Muscular Atrophy (SMA)
Other Photographs
Genetic Variants of Interest
Contact

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