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. 2015 Feb 17;84(7):668–679. doi: 10.1212/WNL.0000000000001269

Figure 2. Phenotypic characteristic of spinal muscular atrophy with lower extremity predominance caused by mutations in DYNC1H1.

Figure 2

Distal wasting in lower limbs, Achilles tendon tightness, and foot deformity (A, B) in case UK1-I at the age of approximately 50 years; hypotonic at birth and proximal contractures at birth (C), distal muscle wasting, proximal weakness, stands with support at 9 years, disproportion between trunk and legs (D, E) in patient UK1-II; arthrogryposis affecting upper and lower limbs and talipes at birth (F), good neck control at 5 months (G), standing with support at 3 years of age, disproportion between trunk and legs, feet deformity (H) in case UK2-I; standing unaided, disproportion between trunk and legs, hips and knees contractures, foot deformity (I) in case UK4-II at the age of 15 years; hyperlordosis, disproportion between trunk and legs (J) and proximal weakness (K), in case NL1-I at the age of 8 years; distal wasting (L) and pes cavus (M) at the age of approximately 40 years in case NL1-II. (N, O) Case SW1-I at age 12 years, feet deformity (operated), short legs, proximal > distal weakness.