Genetic Disorders Information Center

Adrenoleukodystrophy: Types, Causes, Symptoms, Treatment, Prognosis

Adrenoleukodystrophy

Some of the other names for Adrenoleukodystrophy are adrenomyeloneuropathy, childhood cerebral ALD, and Schilder-Addison complex. There are basically three types of Adrenoleukodystrophy. Know the causes, symptoms, treatment and prognosis of Adrenoleukodystrophy.

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Aicardi Syndrome: Causes, Symptoms, Treatment, Life Expectancy

Aicardi Syndrome

Aicardi Syndrome is an extremely rare genetic condition which hampers the development of Corpus Callosum in the brain. Since Aicardi Syndrome is almost always seen in girls hence the mutation is believed to take place in the X chromosome. Know the causes, symptoms, treatment and life expectancy.

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Alexander Disease: Causes, Symptoms, Treatment, Life Expectancy

Alexander Disease

In majority of cases, Alexander Disease begins by the time a child reaches 2 years of age. This is called as infantile form of Alexander Disease. In some cases, Alexander Disease strikes when the child is a bit older. This is called juvenile form of Alexander Disease and is quite rare. Know the causes, symptoms, treatment and life expectancy of Alexander Disease.

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Alexandria’s Genesis – is it Real?

Alexandria’s Genesis – is it Real?

Alexandria’s Genesis which is characterized by an individual having eyes that are violet or purple in color is an unusual condition which is thought to be caused due to a genetic defect. Is Alexandria’s Genesis real, know its causes and symptoms.

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Alkaptonuria: Causes, Disease Mechanism, Symptoms, Diagnosis, Treatment, Prevention

Alkaptonuria

Treatment of Alkaptonuria aims at reducing the pigment deposition, which is responsible for further complications. Know its causes, disease mechanism, symptoms, diagnosis, treatment, prevention.

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Alpers’ Disease: Causes, Symptoms, Treatment, Survival Rate, Pathophysiology, Complications

Alpers’ Disease

Alpers’ Disease is a progressive condition which causes degeneration of the central nervous system, especially degeneration of the gray matter. Alpers’ Disease is a genetic mutation-related disorder in which the POLG gene gets mutated. Know the causes, symptoms, treatment, survival rate, prognosis, pathophysiology and complications of Alpers’ Disease.

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Apert Syndrome: Treatment, Prognosis, Life Expectancy, Causes, Symptoms, Epidemiology

Apert Syndrome

The Apert syndrome is a congenital disorder that is a form of acrocephalosyndactyly. The term “acrocephalosyndactyly” refers to the peaked head shape that is common in every patient suffering from Apert syndrome.

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Ataxia-Telangiectasia or Louis-Bar Syndrome

Ataxia-Telangiectasia or Louis-Bar Syndrome

As of now, there is no definitive cure for Ataxia-Telangiectasia or Louis Bar Syndrome. The physician basically provides supportive treatment and it is aimed at controlling the symptoms and preventing complications.

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Bardet-Biedl Syndrome (BBS): Causes, Symptoms, Diagnosis, Treatment, Prognosis

Bardet-Biedl Syndrome (BBS)

Learn more about Bardet-Biedl Syndrome (BBS), Possible Causes, Symptoms, Diagnosis, Treatment, Prognosis.

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Barth Syndrome: Causes, Symptoms, Treatment, Prognosis, Pathophysiology

Barth Syndrome

Barth syndrome is an X-linked serious genetic disorder which is inherited in a recessive manner. It is seen only in case of males and not in case of females. Barth syndrome is characterized by a triad of symptoms such as cardiomyopathy, skeletal myopathy and neutropenia. Know the causes, symptoms, treatment, prognosis and pathophysiology of barth syndrome.

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Batten Disease: Types, Symptoms, Causes, Treatment, Pathophysiology, Prognosis

Batten Disease

Batten diseases is rare but fatal genetic disorder. It is mainly characterized by problems with the nervous system. There is no cure for Batten disease and death is evident. Thus, all forms of Batten disease have poor prognosis and show a short life span. Know the causes, symptoms, treatment, prognosis and pathophysiology of Batten Disease.

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Beckwith-Wiedemann Syndrome or BWS: Causes, Symptoms, Treatment, Prognosis

Beckwith-Wiedemann Syndrome or BWS

Beckwith-Wiedemann Syndrome is a genetic pathological condition in which the infant born is overgrown or in other words significantly larger than what the norm is. Such infants tend to grow much taller than their peers of their age in childhood. Know the causes, symptoms, treatment and prognosis of Beckwith-Weidemann Syndrome.

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Bloch-Sulzberger Syndrome: Causes, Symptoms, Treatment, Complications, Pathophysiology

Bloch-Sulzberger Syndrome

Bloch-Sulzberger syndrome is a genetic disorder that affects the skin, hair, teeth and the central nervous system. It is an x-linked dominant genetic disorder due to mutation of IKBKG gene (formerly known as NEMO). Know the causes, symptoms, treatment, pathophysiology and complications of Bloch-Sulzberger syndrome.

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C1 Esterase Inhibitor Deficiency: Signs, Symptoms, Etiology, Investigations, Treatment

C1 Esterase Inhibitor Deficiency

C1 Esterase Inhibitor Deficiency attacks are often misdiagnosed for anaphylaxis and also the treatment given during anaphylaxis, such as adrenaline, antihistamines and steroids, are ineffective in this case. Know the signs, symptoms, etiology, investigations and treatment.

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Centronuclear Myopathies (CNM): Treatment, Types, Diagnosis

Centronuclear Myopathies (CNM)

Centronuclear Myopathies are of 2 types, Myotubular Myopathy and Autosomal Centronuclear Myopathies. Know its causes, symptoms, diagnosis, and treatment.

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