User Posts: Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
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Amyotrophic Lateral Sclerosis Type 4 (ALS4)
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Amyotrophic lateral sclerosis type 4 (ALS4) is a rare, inherited form of motor neuron disease. It starts in late childhood or the teen years. It mainly causes ...

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Frontotemporal Lobar Degeneration (FTLD)
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Frontotemporal lobar degeneration is a group of brain diseases that slowly damage the frontal lobes (behind the forehead) and the temporal lobes (on the sides, ...

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Amyotrophic Lateral Sclerosis (ALS) Caused by Mutation in the TARDBP Gene
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Amyotrophic Lateral Sclerosis (ALS) Caused by Mutation in the TARDBP Gene is a serious nerve disease that slowly damages the motor neurons—the cells that carry ...

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Amyotrophic Lateral Sclerosis (ALS) Without Frontotemporal Dementia
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Amyotrophic Lateral Sclerosis (ALS) without Frontotemporal Dementia (FTD) is a distinct form of the neurodegenerative disease where motor neurons are ...

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Amyotrophic Lateral Sclerosis with Frontotemporal Dementia (ALS-FTD)
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Amyotrophic lateral sclerosis with frontotemporal dementia (ALS-FTD) is a condition where two problems happen together. ALS damages the nerve cells (motor ...

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Amyotrophic Lateral Sclerosis Type 10
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Amyotrophic lateral sclerosis type 10, or ALS10, is a genetic form of ALS caused by changes (mutations) in a gene called TARDBP. This gene makes a protein ...

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Kennedy Disease
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Kennedy disease is a rare, inherited nerve-and-muscle disorder. It slowly weakens the muscles of the face, throat (bulbar muscles), arms, and legs. It happens ...

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Spinal and Bulbar Muscular Atrophy (SBMA)
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Spinal and bulbar muscular atrophy (SBMA) is a rare, slowly progressive nerve-and-muscle disease that mainly affects adult males. It happens because of a ...

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Motor Neuron Disease (MND)
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Motor neuron disease (MND) is a group of conditions that slowly damage the motor neurons. Motor neurons are special nerve cells that carry signals from your ...

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Lou Gehrig’s Disease (Amyotrophic Lateral Sclerosis, ALS)
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Lou Gehrig’s disease, also called amyotrophic lateral sclerosis (ALS), is a serious nerve disease that slowly damages the motor neurons—the special nerve cells ...

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Charcot Disease
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Charcot disease usually means amyotrophic lateral sclerosis (ALS) — a progressive nerve disease that damages the motor neurons (the nerve cells that make ...

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Amyotonia Congenita
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Amyotonia congenita means “very low muscle tone present from birth.” Babies with this condition feel floppy when picked up, their joints move too easily, and ...

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Dermatomyositis Sine Myositis
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Dermatomyositis sine myositis means you have the typical skin signs of dermatomyositis but no muscle weakness. Doctors also call it Clinically Amyopathic ...

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Amyopathic Dermatomyositis (ADM)
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Amyopathic dermatomyositis is a form of dermatomyositis where a person has the typical skin rash of dermatomyositis but little or no muscle weakness for at ...

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Amoebiasis Due to Free Living Amoebae
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Amoebiasis due to free-living amoebae means infections in people caused by tiny single-celled organisms (amoebae) that normally live freely in the ...

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Amoebiasis due to Entamoeba Histolytica
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Amoebiasis due to Entamoeba Histolytica is an infection caused by a tiny parasite called Entamoeba histolytica. The parasite lives in the human gut and spreads ...

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Congenital Amniotic Ring Constrictions
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Congenital amniotic ring constrictions—often called Amniotic Band Syndrome (ABS), amniotic band sequence, or constriction ring syndrome—is a birth condition ...

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Streeter Dysplasia
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Streeter dysplasia is a birth condition where thin, string-like bands inside the womb wrap around parts of a growing baby and squeeze them. These bands can ...

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Amniotic Deformity Adhesion Mutilation (ADAM) Syndrome
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Amniotic deformity-adhesion-mutilation syndrome is a birth condition that happens very early in pregnancy. A thin inner lining around the baby—the amniotic ...

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ADAM (Amniotic Deformity, Adhesions, and Mutilations) Syndrome
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ADAM (Amniotic Deformity, Adhesions, and Mutilations) syndrome happens when thin fibrous strands from the inner lining of the amniotic sac (the bag of fluid ...

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