CaseIII/2: 70 year old Caucasian female

DiseaseAssertion: spinal muscular atrophy (SMA),

FamilyInfo: family history was indicative of an autosomal dominant neuromuscular disorder in at least five generations

CasePresentingHPOs: HP:0002076, HP:0003393, HP:0007149, HP:0000365

"Migraine, Thenar muscle atrophy, Distal upper limb amyotrophy, Hearing impairment"

CaseHPOFreeText: impaired mobility of the thumb at age 49 y followed by weakness of the other fingers, mild foot drop bilaterally, recurrent, spontaneous, short-lived aching of the shoulder girdle muscles, reduced tendon reflexes on the upper limbs, weak head anteflexion, recurrent anginal chest pain, reduced Achilles tendon reflexes, and diffuse wasting of all limbs

GenotypingMethod: "DNA analysis"

Variant: NM_000257.4:c.5566G>A

ClinVar: 190403

CAID: CA347253

gnomAD: https://gnomad.broadinstitute.org/variant/14-23883305-C-T

0.000008795 European (non-Finnish)