A 17 year old presents with suspected motor neuropathy

Can you solve the case?

Review the case background and choose from the test options below

How quickly can you reach a diagnosis?
Begin

A 17 year old presents with suspected motor neuropathy

Can you solve the case?

Review the case background and choose from the test options below

How quickly can you reach a diagnosis?
Begin

Clinical and family history

Age 5 Left leg pain, originally thought to be a post-streptococcal reaction
Age 7 Gait had changed, heavier foot print exhibited when walking
Age 12 Reduced muscle strength and muscle mass exhibited in both lower legs
Age 17 Progressed muscle weakness, exhibits foot drop and reports reduced sensation in feet. Only able to walk with support

Summary of testing performed

  • CPK has been measured and is normal
  • An ordered MRI shows mild neural foraminal narrowing
  • An EMG-NCV study has been ordered and shows a probable sensory motor neuropathy that is likely demyelinating

Family history

  • Both parents and siblings are healthy
Age 5 Left leg pain, originally thought to be a post-streptococcal reaction
Age 7 Gait had changed, heavier foot print exhibited when walking
Age 12 Reduced muscle strength and muscle mass exhibited in both lower legs
Age 17 Progressed muscle weakness, exhibits foot drop and reports reduced sensation in feet. Only able to walk with support

Summary of testing performed

  • CPK has been measured and is normal
  • An ordered MRI shows mild neural foraminal narrowing
  • An EMG-NCV study has been ordered and shows a probable sensory motor neuropathy that is likely demyelinating

Family history

  • Both parents and siblings are healthy

What’s the next step?

Based on the available clinical information, it appears that the patient has a slowly progressing neuropathy of unknown etiology with a likely genetic basis.

Based on the available clinical information, it appears that the patient has a slowly progressing neuropathy of unknown etiology with a likely genetic basis.

Which one of the following tests would you order?

Charcot-Marie-Tooth Panel

You’ve ordered a Charcot-Marie-Tooth Panel that provides sequence and deletion/duplication analysis of 42 genes.

This is a logical choice given the symptoms of abnormal gait, heavy footprint and foot drop.

But the results are negative.

You’ve ordered a Charcot-Marie-Tooth Panel that provides sequence and deletion/duplication analysis of 42 genes.

This is a logical choice given the symptoms of abnormal gait, heavy footprint and foot drop.

But the results are negative.

Which one of the following tests would you order next?

Spastic Paraplegia Panel

You’ve ordered a Spastic Paraplegia Panel that provides sequence and deletion/duplication analysis of 45 genes.

This is a logical choice given the symptoms of progressive muscle weakness in the legs and decreased sensation in the feet.

Testing identifies a heterozygous pathogenic variant in the B4GALNT1 gene which is associated with an autosomal recessive neuropathy characterized by dysarthria and dystonia. The patient has neither and only one variant allele is detected.

You’ve ordered a Spastic Paraplegia Panel that provides sequence and deletion/duplication analysis of 45 genes.

This is a logical choice given the symptoms of progressive muscle weakness in the legs and decreased sensation in the feet.

Testing identifies a heterozygous pathogenic variant in the B4GALNT1 gene which is associated with an autosomal recessive neuropathy characterized by dysarthria and dystonia. The patient has neither and only one variant allele is detected.

Which one of the following tests would you order next?

Neuropathies Panel

You’ve ordered a Neuropathies Panel that provides sequence and deletion/duplication analysis of 72 genes.

This is a logical choice given the suspected demyelinating motor neuropathy.

But the results are negative.

 

You’ve ordered a Neuropathies Panel that provides sequence and deletion/duplication analysis of 72 genes.

This is a logical choice given the suspected demyelinating motor neuropathy.

But the results are negative.

 

Which one of the following tests would you order next?

Genomic Unity® Testing

You’ve ordered Genomic Unity® Testing which uniquely uses a whole genome sequencing (WGS) methodology that provides comprehensive sequence, deletion/duplication, copy number variant,  mitochondrial variant and tandem repeat expansion analysis

Testing identifies a compound heterozygous pathogenic sequence variant and a repeat expansion in the FXN gene associated with Friedreich’s ataxia. Friedreich’s ataxia is an autosomal recessive, progressive neurodegenerative movement disorder that is consistent with the clinical symptoms reported.

Congratulations, you’ve solved the case!

Next up: learn more about Genomic Unity® Testing.

You’ve ordered Genomic Unity® Testing which uniquely uses a whole genome sequencing (WGS) methodology that provides comprehensive sequence, deletion/duplication, copy number variant,  mitochondrial variant and tandem repeat expansion analysis

Testing identifies a compound heterozygous pathogenic sequence variant and a repeat expansion in the FXN gene associated with Friedreich’s ataxia. Friedreich’s ataxia is an autosomal recessive, progressive neurodegenerative movement disorder that is consistent with the clinical symptoms reported.

Congratulations, you’ve solved the case!

Next up: learn more about Genomic Unity® Testing.

Interested to explore the results of other testing for comparison?

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