Clinical Reasoning: Siblings with progressive weakness, hypotonia, nystagmus, and hearing loss

Neurology. 2018 Feb 13;90(7):e625-e631. doi: 10.1212/WNL.0000000000004973.

Authors

Kallol K Set¹, Amanda R B Weber¹, Fatema J Serajee¹, Ahm M Huq²

Affiliations

¹ From the Department of Pediatric Neurology, Children's Hospital of Michigan, Wayne State University, Detroit.
² From the Department of Pediatric Neurology, Children's Hospital of Michigan, Wayne State University, Detroit. ahuq@med.wayne.edu.

PMID: 29440549
DOI: 10.1212/WNL.0000000000004973

No abstract available

Publication types

Case Reports

MeSH terms

Bulbar Palsy, Progressive / diagnosis*
Bulbar Palsy, Progressive / genetics
Bulbar Palsy, Progressive / pathology
Bulbar Palsy, Progressive / physiopathology
Child, Preschool
Diagnosis, Differential
Disease Progression
Female
Hearing Loss, Sensorineural / diagnosis*
Hearing Loss, Sensorineural / genetics
Hearing Loss, Sensorineural / pathology
Hearing Loss, Sensorineural / physiopathology
Humans
Male
Muscle Hypotonia / diagnosis*
Muscle Hypotonia / genetics
Muscle Hypotonia / pathology
Muscle Hypotonia / physiopathology
Muscle Weakness / diagnosis*
Muscle Weakness / genetics
Muscle Weakness / pathology
Muscle Weakness / physiopathology
Muscle, Skeletal / pathology
Nystagmus, Pathologic / diagnosis*
Nystagmus, Pathologic / genetics
Nystagmus, Pathologic / pathology
Nystagmus, Pathologic / physiopathology
Siblings

Supplementary concepts

Brown-Vialetto-Van Laere syndrome