Disease Type of connection Spinocerebellar ataxia type 28 CLN3 disease Intermittent hydrarthrosis TRAPS syndrome Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia X-linked agammaglobulinemia 17q11 microdeletion [csbg.cnb.csic.es]

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 - immunodeficiency Aceruloplasminemia Acquired angioedema Acquired ataxia Acquired central diabetes insipidus Acquired idiopathic sideroblastic anemia Acquired myasthenia gravis Acquired neutropenia Acquired peripheral neuropathy Acquired von [sanfordresearch.org]

Additional features are progressive external ophthalmoplegia, progressive sensorineural hearing loss, peripheral neuropathy, foot deformity, basal ganglia calcification, short stature, deafness, OA and cervical lipomas. [neuroweb.us]

stature DRPLA Rare (USA) 20% (Japan) 8 - 20 or 40 - 60's Early onset correlates with shorter duration Chorea, seizures, dementia, myoclonus EA1 Unknown 1st decade (2-15) Attenuates after 20 Myokymia; attacks last seconds to minutes; startle or exercise [slideshare.net]

Arctic type Hereditary cerebral hemorrhage with amyloidosis, Dutch type Hereditary cerebral hemorrhage with amyloidosis, Flemish type Hereditary cerebral hemorrhage with amyloidosis, Iowa type Hereditary cerebral hemorrhage with amyloidosis, Italian [csbg.cnb.csic.es]

[…] hormone level Leprosy A Usually sensory Phenolic glycolipid-1 antibody, skin biopsy Lyme disease A — Lyme titers Lymphoma M Mainly axonal CBC, imaging Monoclonal gammopathy Usually chronic Urine and serum protein electrophoresis with immunofixation Amyloidosis [aafp.org]

[…] ataxia Albright hereditary osteodystrophy Alagille syndrome Alagille syndrome due to a NOTCH2 point mutation Alkaptonuria Allan-Herndon-Dudley syndrome Alpha-1-antitrypsin deficiency Alopecia Alopecia universalis Alport syndrome Amelogenesis imperfecta Amyloidosis [sanfordresearch.org]

Other signs may include respiratory irregularities ( inspiratory stridor ), severe antecollis (“sunflower” appearance or also called camptocormia) and sometimes mild eye movement and REM sleep abnormalities. Dementia occurs rarely. [neuroweb.us]

Tremor, dysmetria, and poor coordination of fine movements are often present. A sensorineural hearing loss has been found in several individuals. Peripheral neuropathy has been reported as well. [disorders.eyes.arizona.edu]

Cardinal features - Cerebellar pathology – Stance and gait – Poor regulation and coordination of skilled movements (Dysmetria and dysdiadokinesia) – Eye movement disturbances – Altered Muscle tone (Hypotonia) – Speech (Dysarthria) 6. [slideshare.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]

Finger-nose and heel-knee-shin tests will demonstrate even mild limb ataxia, with terminal intention tremor and dysmetria (past pointing). Acute-onset ataxia Either due to cerebellar haemorrhage or infarction. [patient.info]

When she was 8 years old, the physical examination of the girl revealed a slight dysarthria, dysmetria on a finger-to-nose test, slowing of fast repetitive movements, and increased tricipital reflex. [ajnr.org]

manifestations of ataxic disorders. [books.google.de]

Neurologic manifestations and dermatitis herpetiformis can occur without histological evidence of bowel involvement. [neuroweb.us]

manifestations beginning in childhood relate to complementation group Ataxia Telangiectasia Progressive ataxia plus Autosomal recessive 11q22-q23 ATM gene Product belongs to the P-13 kinase family of proteins involved in DNA damage recognition Ataxia [emedicine.medscape.com]

Kufs disease should be considered when seizures and motor disturbances complicate the early course of atypical dementia in middle adult life. [neuroweb.us]

A recessively inherited form of presenile dementia with motor disturbances. Arch Neurol. 1967a; 16 :1–13. [ PubMed : 6024251 ] Cross HE, McKusick VA. The Troyer syndrome: a recessive form of spastic paraplegia with distal muscle wasting. [ncbi.nlm.nih.gov]

Marinesco-Sjögren syndrome: Marinesco-Sjögren syndrome is a rare disorder with onset in infancy or childhood. Homozygosity mapping in two large consanguineous families of Turkish and Norwegian origin mapped the disease gene on chromosome 5q31[ 45 ]. [wjgnet.com]