Patient 3 (daughter) presented at age 14 with visual acuity of 20/50 bilaterally and minimal funduscopic changes. [ncbi.nlm.nih.gov]

Clinical description XLSA-A usually presents before the age of 3 years. Anemia is usually asymptomatic. [rarediseases.info.nih.gov]

• Pain

  Some patients exhibit gastrointestinal (GI) disorders such as vomiting and abdominal pain as initial symptoms. GI problems can persist. Scoliosis and urinary problems (nycturia or urinary urgency) are also observed. [rarediseases.info.nih.gov]

• Asymptomatic

  Males who inherit the mutation from their mother will be affected while females who inherit the mutation from their father or mother will be carriers and are clinically asymptomatic. [rarediseases.info.nih.gov]

  Two ataxic siblings and 2 asymptomatic family members were examined using an enhanced clinical protocol for a follow-up period of 7 years. [ncbi.nlm.nih.gov]

• Short Stature

  stature Decreased body height Small stature [ more ] 0004322 Spasticity Involuntary muscle stiffness, contraction, or spasm 0001257 Showing of 17 | Last updated: 6/1/2019 Making a diagnosis for a genetic or rare disease can often be challenging. [rarediseases.info.nih.gov]

• Dyspnea

  Exclusion criteria included history of stroke, other neuromuscular diseases and dementia, complications including severe infection, deep vein thrombosis, orthopedic diseases causing pain during gait, unstable angina and cardiopulmonary disease causing dyspnea [doi.org]

• Muscular Atrophy

  Type II features ataxia and ocular signs; Type III features MUSCULAR ATROPHY and a sensorimotor neuropathy; and Type IV features extrapyramidal signs combined with a sensorimotor neuropathy. [hon.ch]

  Spinal and Bulbar Muscular Atrophy Albert La Spada. Initial Posting: February 26, 1999; Last Update: January 26, 2017. Spinal Muscular Atrophy Thomas W Prior and Erika Finanger. Initial Posting: February 24, 2000; Last Update: December 22, 2016. [ncbi.nlm.nih.gov]

• Ataxia

  Among the more common inherited ataxias are Friedreich’s ataxia and Machado-Joseph disease. Sporadic ataxias can also occur in families with no prior history. Ataxia can also be acquired. [ninds.nih.gov]

  KEYWORDS: Genotype; Jew Yemenite; Phenotype; Spinocerebellar ataxia; Vestibulo-ocular reflex [ncbi.nlm.nih.gov]

• Cerebellar Ataxia

  ataxia ADCA edit English autosomal dominant cerebellar ataxia hereditary ataxia that has material basis in autosomal dominant inheritance autosomal dominant cerebellar ataxia spinocerebellar ataxia cerebellar ataxia, autosomal dominant Autosomal dominant [wikidata.org]

  Autosomal dominant cerebellar ataxia type I is composed mainly of 3 prevalent spinocerebellar ataxia types with different pathogenic loci, specifically spinocerebellar ataxia 1 (6p24-p23), spinocerebellar ataxia 2 (12q24.1), and spinocerebellar ataxia [ncbi.nlm.nih.gov]

  The clinical features vary widely from sensory neuropathy with little cerebellar ataxia to cerebellar ataxia with little sensory neuropathy. [rarediseases.info.nih.gov]

• Dysarthria

  Abstract A 58-year-old man consulted our hospital due to a 2-year history of dysarthria and a 1-month history of blepharospasm. [ncbi.nlm.nih.gov]

  Ataxia, dysarthria, and horizontal gaze nystagmus are the common manifestations of SCA31 and the disease duration can be more than 10 years. [rarediseases.info.nih.gov]

• Gait Ataxia

  gait ataxia) and eye movement abnormalities. [rarediseases.info.nih.gov]

  Abstract We report three affected members, a mother and her two children, of a non-consanguineous Irish family who presented with a suspected autosomal dominant spinocerebellar ataxia characterized by early motor delay, poor coordination, gait ataxia, [ncbi.nlm.nih.gov]

• Peripheral Neuropathy

  Conditions that can cause acquired ataxia include stroke, multiple sclerosis, tumors, alcoholism, peripheral neuropathy, metabolic disorders, and vitamin deficiencies. Treatment There is no cure for the hereditary ataxias. [ninds.nih.gov]

  Gaze nystagmus, cerebellar dysarthria, peripheral neuropathy, stepagge gait and pes cavus develop as disease progresses. Cerebellar atrophy (especially of the vermis) is present in all affected individuals. [rarediseases.info.nih.gov]

Further genetic workup revealed 96 CAG repeat expansion compared with a normal of CONCLUSION: Spinocerebellar ataxia Type 7 is a disease of expanded CAG repeats showing genetic anticipation. [ncbi.nlm.nih.gov]

Upon study completion, all patients wished to continue treatment with the allogeneic MSCs. [ncbi.nlm.nih.gov]

These data suggest that the treatment effect is sustained in the those who continue to receive trehalose and was lost in those who were withdrawn from treatment. [ih.advfn.com]

Treatment There is no cure for the hereditary ataxias. If the ataxia is caused by another condition, that underlying condition is treated first. [ninds.nih.gov]

Management and treatment There is no cure for XLSA-A and treatment is symptomatic. Anemia does not require treatment. Early physical therapy may aid in the acquisition of gross motor skills. [rarediseases.info.nih.gov]

Prognosis The prognosis for individuals with ataxia and cerebellar/spinocerebellar degeneration varies depending on its underlying cause. x Prognosis The prognosis for individuals with ataxia and cerebellar/spinocerebellar degeneration varies depending [ninds.nih.gov]

Prognosis Prognosis is unfavorable. Patients are wheelchair-bound by adolescence. Early death is common due to severe seizures. [rarediseases.info.nih.gov]

Prognosis Prognosis is relatively good. Patients can walk unassisted until the 7th decade of life. Life-threatening status epilepticus and intractable seizure or severe dysphagia are rare. [orpha.net]

Etiology This subtype is caused by a mutation in the fibroblast growth factor 14 FGF14 gene (13q34). Prognosis Prognosis is relatively good. Patients can walk unassisted until the 7th decade of life. [orpha.net]

Etiology IOSCA is caused by mutations in the C10orf2 gene (10q24) encoding the mitochondrial helicase Twinkle. The c.1523A>G (p.Y508C) causative mutation has been postulated to be a founder mutation. [rarediseases.info.nih.gov]

ORPHA:98764 Classification level: Disorder Synonym(s): SCA27 Prevalence: <1 / 1 000 000 Inheritance: Autosomal dominant Age of onset: Adolescent, Adult ICD-10: G11.8 OMIM: 193003 UMLS: C1836383 MeSH: C537204 GARD: 9963 MedDRA: - Summary Epidemiology Fewer [orpha.net]

Epidemiology So far, 24 cases have been reported. In Finland, IOSCA has a population carrier frequency of more than 1:230. [rarediseases.info.nih.gov]

Molecular epidemiology of spinocerebellar ataxias in Cuba: Insights into SCA2 founder effect in Holguin. Neurosci Lett, 2009; 454:157-60. 14.-Saleem Q, Choudhry S. [medigraphic.com]

The underlying pathophysiologic mechanisms remain to be elucidated. Further experience with spinal cord stimulation in refractory gait disorders is warranted. [ncbi.nlm.nih.gov]

[…] former President of the European Neurological Society and Special Medical Advisor to Bioblast commented, “Hereditary ataxias – of which SCA3 is one out of a group that includes more than six others – have various genetic defects with presumed different pathophysiologies [ih.advfn.com]

Ocular motor disorders associated with cerebellar lesions: pathophysiology and topical localization. Rev Neurol 1993 ; 149: 665 – 77. Google Scholar | Medline | ISI 112. Serra, A, Derwenskus, J, Downey, DL, Leigh, RJ. [doi.org]

A variety of drugs may be used to either effectively prevent symptoms or reduce the frequency with which they occur. [ninds.nih.gov]

The aim is to treat the symptoms and prevent complications. [medlineplus.gov]

Prevention of secondary complications : Weight control. Surveillance: Evaluation by a neurologist at least annually, and more often in the event of acute exacerbation. [ncbi.nlm.nih.gov]

Genetic counseling is an important clinical tool for preventing new cases, especially for couples with an affected first child: the risk of having an affected child in further pregnancies is 25%. [rarediseases.info.nih.gov]