Article
Atypical rigid form of Huntington's disease: a case with peripheral amyotrophy and congenital defects of a lower limb.
Internal medicine (Tokyo, Japan) - 1 Nov 1998
Kanzato N, Saito M, Horikiri T, Komine Y, Nakagawa M, Matsuzaki T
Abstract excerpt
We describe a patient showing an atypical phenotype of Huntington's disease (HD), including prominent generalized dystonia, peripheral amyotrophy of the legs with an inverted champagne bottle configuration and pes equinus. The patient also had congenital defects of the lower left leg. Chorea and...
Topics
- Adult
- Alleles
- Cerebellum
- DNA
- Diagnosis, Differential
- Foot Deformities, Congenital
- Humans
- Huntingtin Protein
- Huntington Disease
- Magnetic Resonance Imaging
- Male
- Muscle Rigidity
- Muscular Atrophy
- Nerve Tissue Proteins
- Nuclear Proteins
- Phenotype
- Polymerase Chain Reaction
- Pons