[…] found but may be more prominent amongst cases involving SACS gene deletions. 9, 21, 24 Bladder and bowel symptoms are not well-studied in ARSACS although urinary urge incontinence has been most commonly described. 2,6,18,21,23 Faecal incontinence and constipation [acnr.co.uk]

Syndrome Generalized Lipodystrophy, with Mental Retardation, Deafness, Short Stature, and Slender Bones Gonadal Dysgenesis, XX Type, with Deafness Griscelli syndrome Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis [rgd.mcw.edu]

[…] dysostosis of Weyers, see Weyers acrofacial dysostosis acroerythrokeratoderma, see mal de Meleda acrofacial dysostosis 1, Nager type, see Nager syndrome acromicric dysplasia acroosteolysis dominant type, see Hajdu-Cheney syndrome acroosteolysis with osteoporosis [mygenomics.com]

impairment Deafness Hearing defect [ more ] 0000365 Impaired vibration sensation in the lower limbs Decreased lower limb vibratory sense Decreased vibratory sense in lower limbs Decreased vibratory sense in the lower extremities Decreased vibratory sense [rarediseases.info.nih.gov]

Bomont P, Watanabe M, Gershoni-Barush R, Shizuka M, Tanaka M, Sugano J, Guiraud-Chaumeil C, Koenig M (2000) Homozygosity mapping of spinocerebellar ataxia with cerebellar atrophy and peripheral neuropathy to 9q33–34, and with hearing impairment and optic [link.springer.com]

impairment, enlarged vestibular aqueduct, and goiter, see Pendred syndrome autosomal recessive spastic ataxia of Charlevoix-Saguenay autosomal recessive spastic paraplegia 15, see spastic paraplegia type 15 autosomal recessive spastic paraplegia 5A, [mygenomics.com]

Bomont P, Watanabe M, Gershoni-Barush R, Shizuka M, Tanaka M, Sugano J, Guiraud-Chaumeil C, Koenig M: Homozygosity mapping of spinocerebellar ataxia with cerebellar atrophy and peripheral neuropathy to 9q33 q34, and with hearing impairment and optic atrophy [karger.com]

Homozygosity mapping of spinocerebellar ataxia with cerebellar atrophy and peripheral neuropathy to 9q33–34, and with hearing impairment and optic atrophy to 6p21–23. Eur J Hum Genet 2000 ; 8 : 986 –90. [jmg.bmj.com]

Phenylketonuria (PKU) Nitrogen Metabolism Defect Autosomal Recessive. [kumc.edu]

sense Decreased vibratory sense in lower limbs Decreased vibratory sense in the lower extremities Decreased vibratory sense in the lower limbs Diminished vibratory sensation in the legs [ more ] 0002166 Mildly elevated creatine kinase 0008180 Nystagmus [rarediseases.info.nih.gov]

The proband’s brother began to show myoclonic, dystonic, and tremulous movements, as well as vertical ocular flutter at age 37 years ( Figure, C and Video ). [jamanetwork.com]

The proband’s brother began to show myoclonic, dystonic, and tremulous movements, as well as vertical ocular flutter at age 37 years ( Figure, C and Video ). [jamanetwork.com]

limb vibratory sense Decreased vibratory sense in lower limbs Decreased vibratory sense in the lower extremities Decreased vibratory sense in the lower limbs Diminished vibratory sensation in the legs [ more ] 0002166 Mildly elevated creatine kinase [rarediseases.info.nih.gov]

There is a burst of generalized discharges of spikes, multiple spikes and slow waves at 4 to 5 Hz, with greater voltage on the left. The discharges lasted for more than a second without clinical manifestation. [academic.oup.com]