Child Neurology

Question 1

SMA type 1 (werdnig-hoffman disease)

Answer 1

SMN1 and SMN2 on Chr5.
SMN1 - most survival motor protein
SMN2 -nucleotide substitution and most mRNA transcripts of this gene splice out exon 7 –> shortened copies of SMNP
Disease = deletion of SMN1 or mutation in this gene

Question 2

Emery-Dreifuss

Answer 2

X linked; Emerin (nuclear membrane protein)
AD - LMNA (encodes for nuclear membrane protein laminin A/C)
Contractures of elbows, ankles and neck
Weakness in upper arms and shoulder girdle muscles –> pelvic girdle and distal leg
Cardiac conduction defects

Question 3

Ataxia-Telangiectasia Type 1

Answer 3

AR
Progressive ataxia, oculomotor apraxia, and oculocutaneous telangiectasia
Chr 11