disability, and seizures 617157 610087 Autosomal recessive PRNP 20p13 {Kuru, susceptibility to} 245300 176640 PRNP 20p13 Huntington disease-like 1 603218 176640 Autosomal dominant PRNP 20p13 Cerebral amyloid angiopathy, PRNP-related 137440 176640 Autosomal [mnglabs.com]

SPG23 is an autosomal recessive form characterized by childhood-onset of gait difficulties and pigmentary abnormalities, including premature graying of the hair and vitiligo-like or hyperpigmented skin lesions. [ghr.nlm.nih.gov]

SPG23 is an autosomal recessive form characterized by childhood-onset of gait difficulties and pigmentary abnormalities, including premature graying of the hair and vitiligo-like or hyperpigmented skin lesions. {ECO:0000269 PubMed:28157540}. [genecards.org]

graying of hair, and characteristic facies (i.e. thin with ''sharp'' features). [rarediseases.info.nih.gov]

Autosomal recessive spastic paraplegia type 23 (SPG23) is a rare, complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation [rarediseases.info.nih.gov]

[…] consistent with any of the following: A relative with a known deleterious STK11 (LKB1) gene mutation; or A clinical diagnosis of PJS based on at least 2 of the following features: At least 2 PJS-type hamartomatous polyps of the small intestine; Mucocutaneous hyperpigmentation [aetna.com]

Albinism (hair) Irregular decreased skin pigmentation Excessive freckling Insensitivity to pain Paraparesis/quadraparesis [en.wikipedia.org]

Autosomal recessive spastic paraplegia type 35 is a rare form of hereditary spastic paraplegia characterized by childhood (exceptionally adolescent) onset of a complex phenotype presenting with lower limb (followed by upper limb) spasticity with hyperreflexia [monarchinitiative.org]

Occasional patients with this form had upper extremity hyperreflexia, pes cavus and sphincter disturbances, even at the early stages. [thieme-connect.com]

[…] spasticity is increased at the hamstrings, quadriceps and ankles  Weakness is most notable at the iliopsoas, tibialis anterior, hamstring muscles  difficulty in walking, decreased vibratory sense at the ankles, and paresthesia  In lower extremities hyperreflexia [slideshare.net]

Showing of 25 30%-79% of people have these symptoms Bowel incontinence Loss of bowel control 0002607 Bowel urgency 0012701 Hyperreflexia Increased reflexes 0001347 Kyphoscoliosis 0002751 Multiple lentigines 0001003 Spastic gait Spastic walk 0002064 Spastic [rarediseases.info.nih.gov]

Hyperreflexia of the lower as well as the upper limbs was also observed. Brain MRI findings were similar to that of patient II3. [omicsonline.org]

[…] posterior columns, spinocerebellar tracts, vestibular nuclei, red nuclei, pontine nuclei, and the inferior olivary nuclei). 3 In addition to imbalance (midline ataxia), poor limb coordination (dysmetria/dysdiadochokinesia), dysarthria, oscillopsia, and nystagmus [elsevier.es]

There may be upper limb involvement and nystagmus. Some patients additionally present with parkinsonism or ataxia. [intechopen.com]

Additional findings include upper limb hyperreflexia, sphincter dysfunction, spastic dysarthria, optical neuropathy, nystagmus, strabismus, decreased hearing, scoliosis, pes cavus, motor and sensory neuropathy, amyotrophy, blepharoptosis and ophthalmoplegia [journals.plos.org]

X-linked congenital stationary night blindness with myopia and nystagmus without clinical complaints of nyctalopia. J Pediatr Ophthalmol Strabismus. 1988;25(1):33-36. Lorenz B, Andrassi M, Miliczek KD. [aetna.com]

[…] syndrome due to TUD deficiency Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency Autosomal recessive cerebellar ataxia-psychomotor delay syndrome Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor [orpha.net]

sign 0003487 Cognitive impairment Abnormality of cognition Cognitive abnormality Cognitive defects Cognitive deficits Intellectual impairment Mental impairment [ more ] 0100543 Hyperpigmentation in sun-exposed areas Increased pigmentation in sun-exposed [rarediseases.info.nih.gov]

Examination at the age of 22 years after a traffic accident revealed failure of abduction of the left eye, hyperreflexia in all four extremities and Babinski sign. [journals.plos.org]

Detailed neurological examination showed predominantly bilateral proximal pronounced paresis (3/4) of the lower limbs with hyperreflexia and positive bilateral Babinski sign. He also complains about urinary urgency. [omicsonline.org]

III-1 III-3 Age at examination 63 53 Onset 58 48 Leg spasticity Limb ataxia Thigh muscle atrophy Patellar Tendon Reflex (PTR) Achilles Tendon Reflex (ATR) Babinski sign Vibration sense Normal Normal Sphincter involvement Mini-Mental State Examination [intechopen.com]

sign, and scoliosis; within 10 to 15 years of onset, patients have to use wheelchairs. 22 In addition to axonal sensory polyneuropathy, auditory and optic neuropathy are also frequently observed. [elsevier.es]