background participants

Participant 091


On this page, you will find information about a UDN participant.

Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.

 

Female, age 57 with progressive, undiagnosed muscle weakness

Date of Report

Oct 24, 2018

Description

The participant has had trouble walking her entire life.  As a child, she used foot braces and started using a cane when she was 35. In her 40s, she started having arm weakness as well. Currently she has numbness and sharp burning pain in her hands and feet. She is no longer able to walk and uses a power chair. She also has episodes that she describes as “drop attacks” where she loses consciousness and appears asleep. During these episodes, she cannot move and her husband reports that she grinds her teeth and that he cannot wake her.

In the last 5 years, she has also started having difficulty swallowing (dysphagia). As a result, she is only able to eat soft foods and has lost a significant amount of weight. She also has issues breathing (dyspnea) and with double vision (diplopia). Her husband has reported that she has been struggling with memory. An EMG was recently performed, which showed myopathy without denervation. There was no evidence of a motor neuron disease, like amyotrophic lateral sclerosis (ALS).

Symptoms / Signs
  • Progressive muscle weakness
  • Inability to walk
  • Difficulty breathing (dyspnea)
  • Difficulty swallowing (dysphagia)
  • Muscle twitching in the face (facial-lingual fasciculations)
  • Damaged nerve cells (peripheral neuropathy)
  • Absent reflexes (areflexia)
  • Impaired sense in the outer body (distal sensory impairment)
  • Muscle cramps and myopathy
  • Weight loss
  • Weak bones (osteoporosis)
  • Depression
  • Memory impairment
  • Migraine
  • Double vision (diplopia)
  • Curvature of the spine (scoliosis)
  • Hand tremor
  • Feet muscle (dorsiflexor) weakness
  • Arthritis
  • Abnormality in electrical activity of muscles (EMG abnormality)
Current Treatments
  • Baclofen – muscle twitches
  • Neurotonin – seizures
  • Rizatriptan, Propranolol – migraines
Prior Treatments
Considered treatments
Previously Considered Diagnoses
  • Amyotrophic lateral sclerosis (ALS)
  • Mitochondrial disorder
  • Muscular dystrophy – nondiagnostic panel testing
  • Single gene condition – nondiagnostic exome sequencing
Other Photographs
Genetic Variants of Interest
Contact

If this participant sounds like you or someone you know, please contact us!

Disclaimer

The information provided here is based on individual patient experiences. This information is not meant to substitute for advice of a qualified health care provider. Please do not use this information to diagnose or develop a treatment plan for a health problem or disease without consulting a qualified health care provider.

Any mention of products or services is not meant as a recommendation of the products or services. Please discuss any options with a qualified health care provider.

Developments in medical research may impact the information that appears here. No assurance can be given that the information in this site will include the most recent findings or developments.

The use of any information provided on this site is solely at your own risk.