More than 60% of patients present with dysphagia which frequently results in aspiration and death. Mean disease duration is less than 18 years and a few patients live beyond 60 years of age. [orpha.net]

It presents with cerebellar ataxia, sensorineural hearing loss, and discrete motor neuron impairment (tongue atrophy with denervation, discrete pyramidal signs). [elsevier.es]

DIAGNOSIS  Recognize progressive ataxia syndrome and associated features  Oculomotor : slow saccades  Bulbar : facial, temporal, tongue atrophy, fasciculation,  cough, dysphagia  UMN : brisk reflexes, spasticity, Babinski  Extrapyramidal : bradykinesia [slideshare.net]

[…] factor VIII deficiency [hemophilia A/VWF] D67 Hereditary factor IX deficiency [hemophilia B] D68.2 Hereditary deficiency of other clotting factors [deficiency of factor II (prothrombin), 20210A mutation] D69.42 Congenital and hereditary thrombocytopenia purpura [aetna.com]

The condition is caused by a genetic mutation (intronic hexanucleotide repeat expansion) in the NOP56 gene on the short arm of chromosome 20 (20p13). [elsevier.es]

A point mutation in the PMP22 gene which encodes a peripheral myelin protein with an apparent molecular weight of 22,000 or a DNA duplication of a specific region 5 megabases) including the PMP22 gene in the proximal short arm of chromosome 17 (band 17p11.2 [aetna.com]

Suspected Diagnosis Achondroplasia (FGFR3) Albinism Alpha-1 antitrypsin deficiency (SERPINA1) Alpha thalassemia / Hb Bart hydrops fetalis syndrome/HbH disease Footnotes ** (HBA1/HBA2, alpha globin 1 and alpha globulin 2) (see below) Angelman syndrome [aetna.com]

SCAR17 features include non-progressive congenital cerebellar ataxia, mildly delayed walking with an unsteady gait and frequent falls, dysarthria, dysmetria, hypotonia in the extremities, truncal ataxia, increased reflexes in the lower extremities, and [malacards.org]

Oculomotor ataxia accompanies gait ataxia which causes dysarthria, muscle weakeness, loss of joint position sense and limb dysmetria. In some cases, patients have shown mental retardation and loss of myelinated axons. [ipfs.io]

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]

Clinical examination reveals a gait disorder with imbalance, staggering, and difficulties with tandem walking, upper-limb and lower-limb dysmetria, dysdiadochokinesia (difficulty performing rapidly alternating movements), hypotonia, cerebellar dysarthria [blogs.nejm.org]

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

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]

Because some patients with MIRAS have presented with ataxia or epilepsy already in childhood, these investigators searched for POLG1 mutations in neurologic manifestations in childhood. [aetna.com]

Brain imaging consistently showed white matter lesions and cerebellar atrophy. [movementdisorders.org]

matter lesions and subcortical infarcts on neuroimaging. [chginc.org]