stature Decreased body height Small stature [ more ] 0004322 Spasticity Involuntary muscle stiffness, contraction, or spasm 0001257 Showing of 17 Last updated: 5/1/2019 Making a diagnosis for a genetic or rare disease can often be challenging. [rarediseases.info.nih.gov]

[…] encephalopathy with microcephaly Severe neurodegenerative syndrome with lipodystrophy Short stature-intellectual disability-eye anomalies-cleft lip/palate syndrome Short stature-webbed neck-heart disease syndrome Short ulna-dysmorphism-hypotonia-intellectual [se-atlas.de]

stature SCA14 (autosomal dominant type 14) 19q13.4, Protein kinase C γ Pure ataxia in late-onset ( 39), myoclonus and ataxia in young-onset SCA15 (one Australian family) 3p24.2-pter (6q27 with CAG repeats) Pure ataxia, slowly progressive SCA16 (one Japanese [bcm.edu]

Clinical features Early onset progressive ataxia Short stature Hypodontia Delayed puberty secondary to gonadal dysfunction Laboratory MRI shows white matter signal abnormalities consistent with central hypomyelination and cerebellar atrophy. [emedicine.medscape.com]

stature and weight, anemia, and hypoglycemia Even when treated, tend to show executive deficits, ADHD symptoms and below average IQ SEX-LINKED CHROMOSOMAL DISORDERS x-linked disorders – may be rare in females if it is a recessive trait unless there is [brainaacn.org]

speech development Impaired speech and language development Impaired speech development Language delay Language delayed Language development deficit Late-onset speech development Poor language development Speech and language delay Speech and language [rarediseases.info.nih.gov]

People with IOSCA may experience excessive sweating, difficulty controlling urination, and severe constipation. IOSCA also leads to vision and hearing problems that begin by about age 7. [diseaseinfosearch.org]

hypotonia Ataxia telangiectasia like disorder Ataxia, posterior column, with retinitis pigmentosa Ataxia, progressive seizures, mental deterioration, and hearing loss, MT-TV related Ataxia-oculomotor apraxia Ataxia-telangiectasia Attention deficit-hyperactivity [qlinics.com]

[…] body height Small stature [ more ] 0004322 Spasticity Involuntary muscle stiffness, contraction, or spasm 0001257 Showing of 17 Last updated: 5/1/2019 Making a diagnosis for a genetic or rare disease can often be challenging. [rarediseases.info.nih.gov]

[…] and language difficulties Speech delay [ more ] 0000750 Dysmetria Lack of coordination of movement 0001310 Gait ataxia Inability to coordinate movements when walking 0002066 Generalized hypotonia Decreased muscle tone Low muscle tone [ more ] 0001290 Hyperreflexia [rarediseases.info.nih.gov]

The SCA7 is found to be associated with retinopathy or blindness where as the SCA 8 may cause hyperreflexia, decreased sense of vibration, as well as ataxic dysarthria.[6]. [explainmedicine.com]

18p11.22-q11.2 Spinocerebellar ataxia (SCA29) OMIM #117360 Early onset, nonprogressive ataxia Vermian hypoplasia -- 18p11.22-q11.2 Spinocerebellar ataxia(SCA30) OMIM #613371 Dysarthria Lower limb hyperreflexia Hypermetric saccades -- 4q34.3-q35.1 [emedicine.medscape.com]

mild SCA12 (autosomal dominant type 12) 5q31-q33, 66 CAG repeats in the promotor region, coding for protein phosphatase 2A Tremor, bradykinesia, parkinsonism, dementia, hyperreflexia SCA13 (single French family) 19q13.3-q13.4 (6q27 with CAG repeats [bcm.edu]

 Clinical features: – Parkinsonism • Asymmetric, postural/action tremor, early gait problems, dopa responsive – Cerebellar • Gait and limb ataxia, nystagmus, dysarthria – Autonomic • Orthostatic hypotension, bladder dysfunction, impotence – Other • Hyperreflexia [slideshare.net]

[…] language development Impaired speech development Language delay Language delayed Language development deficit Late-onset speech development Poor language development Speech and language delay Speech and language difficulties Speech delay [ more ] 0000750 Dysmetria [rarediseases.info.nih.gov]

In addition to these eye movement abnormalities, patients had developmental delays and ataxia, nystagmus, dysarthria, tremor, dysmetria, and seizures The epilepsies. [epilepsygenetics.net]

A slowly progressive cerebellar syndrome with various combinations of oculomotor disorders, dysarthria, dysmetria/kinetic tremor, and ataxic gait are key presenting features. [emedicine.medscape.com]

Clinical features of cerebellar disease  Ataxia (appendicular or axial)  Dysmetria  Dyssynergia  Dysdiadochokinesia  Rebound Phenomenon  Dysarthria  Tremor  Titubation and increased postural sway  Hypotonia  Asthenia  Nystagmus 12. [slideshare.net]

Objective findings included ataxia, dysmetria on finger to nose and/or heel to shin test, tremor, nystagmus, and retained reflexes in the lower limbs. Neurological symptoms and the phenotype of the affected members are presented in table 1. [jmg.bmj.com]

Sensory Ataxia  Loss of distal joint, position sense  Absence of cerebellar signs such as dysarthria or nystagmus  Loss of tendon reflexes  Corrective effects of vision on sensory ataxia  Romberg sign • Sensory neuropathy and posterior column disease [slideshare.net]

Clinical features Areflexia, proprioceptive dysfunction, loss of reflexes, and Babinski sign (prominent findings) By 5-10 years, gait disturbances and cerebellar signs Malabsorptive state in the early years with steatorrhea and abdominal distension Pes [emedicine.medscape.com]

In two patients (III:12 and III:15) the cerebellar signs were accompanied by tremor of the hands, which can be described as postural tremor. [jmg.bmj.com]

signs, optic neuropathy, ptosis, teenage or adult onset, cerebellar atrophy HSP [ 111, 112 ] SPG5 CYP7B1 270800 Spasticity, cerebellar and sensory ataxia, childhood or teenage onset, white matter lesions HSP [ 113, 114 ] SPG11 KIAA1840 604360 Spasticity [cerebellumandataxias.biomedcentral.com]

delay Language delayed Language development deficit Late-onset speech development Poor language development Speech and language delay Speech and language difficulties Speech delay [ more ] 0000750 Dysmetria Lack of coordination of movement 0001310 Gait [rarediseases.info.nih.gov]

delays Some eventually decline to the point of dementia; some have autistic features – overall, highly variable (partly attributable to location of abnormal gene – chromosome 9 or 16) CNS correlate of skin lesions are cerebral tubers (“potato-like brain [brainaacn.org]

delay Laboratory findings Elevated 4-hydroxybutyric acid in plasma, urine, and CSF High free GABA in CSF Cerebellar atrophy on MRI Treatment L-carnitine supplementation has been tried with improvement in muscle tone. [emedicine.medscape.com]

speech and language development Deficiency of speech development Delayed language development Delayed speech Delayed speech acquisition Delayed speech development Impaired speech and language development Impaired speech development Language delay Language [rarediseases.info.nih.gov]