WHAT ARE HEREDITARY ATAXIAS? Ataxia is a neurologic disorder in which there is loss of coordination of movement. It can result from dysfunction of the cerebellum and brain stem and their afferent or efferent pathways. The etiology of ataxia can be divided into 3 main categories: acquired, sporadic, and hereditary. Hereditary ataxias are one of the largest groups of hereditary progressive neurod...

Thalassemia is a preventable hereditary disorder,each of the parent must be autosomal recessive tohave child with serious symptoms majordisease. occurs due to abnormal ordeficient Hemoglobin (an iron containing proteins)in Red Blood cells. Depending upon type ofproteins involved, there are two types ofThalassemia, aThalassemia and (3 12

What are Hereditary Ataxias? Ataxia is a neurologic disorder in which there is loss of coordination of movement. It can result from dysfunction of the cerebellum and brain stem and their afferent or efferent pathways. The etiology of ataxia can be divided into 3 main categories: acquired, sporadic, and hereditary. Hereditary ataxias are one of the largest groups of hereditary progressive neurod...

Hereditary angioedema is a rare, but potentially life-threatening genetic disorder that results from an autosomal dominant trait. It is characterized by acute, recurrent attacks of severe local edema, most commonly affecting the skin and mucosa. Swelling in hereditary angioedema patients does however not always have to be caused by angioedema but can relate to other concomitant disorders. In th...

Background Hereditary Angioedema (HAE) is an autosomal dominant disorder resulting from a deficiency of C1 esterase inhibitor (C1-INH). It is a rare disease with clinical manifestations debilitating and potentially fatal. The aim of this study was to report the clinical and laboratory characteristics and treatment of patients with Hereditary Angioedema with C1-INH deficit Outpatient Immunology ...

Mutations in the kinesin family member 1A (KIF1A) gene have been associated with a wide range of phenotypes including recessive mutations causing hereditary sensory neuropathy and hereditary spastic paraplegia and de novo dominant mutations causing a more complex neurological disorder affecting both the central and peripheral nervous system. We identified by exome sequencing a de novo dominant ...

Albright hereditary osteodystrophy (AHO) is a genetic syndrome characterized by a distinctive set of developmental and skeletal defects that may easily be misdiagnosed as exogenous obesity in children. There are very few publications detailing the comprehensive management of children and adolescents with this disorder. This chapter provides a comprehensive discussion of the various aspects of t...