Rx Autoimmune, Genetic and Rare Diseases (A - Z)Childhood Encephalopathy Due to Thiamine Pyrophosphokinase Deficiency Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Childhood encephalopathy due to thiamine pyrophosphokinase deficiency is a very rare genetic brain disease that starts in babies or young children. In this disease, a gene called TPK1 does not work ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Heller Syndrome Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Heller syndrome is an old name for a rare brain and development problem in children. Doctors now usually call it childhood disintegrative disorder (CDD), and in new books it is counted inside the ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Dementia Infantilis Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Dementia infantilis is an old name for a rare brain and development problem that is now called childhood disintegrative disorder (CDD) or Heller syndrome. It happens in children who first grow ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Paediatric Astrocytoma of the Cerebellum Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Paediatric astrocytoma of the cerebellum is a brain tumour that starts from special support cells in the brain called astrocytes, in the back part of the brain called the cerebellum. The cerebellum ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Cerebellum Childhood Astrocytic Tumor Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. A cerebellum childhood astrocytic tumor is a brain tumor that grows from “astrocytes,” which are star-shaped support cells in the brain, inside the cerebellum at the back of the head. In children, ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Childhood Cerebellar Astrocytic Neoplasm Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Childhood cerebellar astrocytic neoplasm is a brain tumor that starts from special support cells in the brain called astrocytes. These cells are star-shaped and help feed and protect nerve cells. ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Pediatric Carcinoid Tumor Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. A pediatric carcinoid tumor (also called a childhood gastrointestinal neuroendocrine tumor) is a rare type of cancer that starts in special hormone-making cells in the gut or sometimes in the lungs ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Paediatric Brain Stem Glioma Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Paediatric brain stem glioma is a tumour made from “glial cells” (support cells in the brain) that grows in the brain stem of a child. The brain stem is the part of the brain that joins the brain to ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Paediatric Acute Lymphogenous Leukemia Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Paediatric acute lymphogenous leukaemia (usually called childhood acute lymphoblastic leukaemia or ALL) is a blood cancer in children. In this disease, the bone marrow makes too many very young white ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Childhood Acute Lymphoid Leukemia (ALL) Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Childhood acute lymphoid leukemia (ALL) is a blood cancer that starts in the bone marrow, the soft part inside bones where new blood cells are made. In this disease, very young white blood cells ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)X-Linked Dominant Congenital Hemidysplasia with Ichthyosiform Nevus and Limb Defects Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. X-linked dominant congenital hemidysplasia with ichthyosiform nevus and limb defects is usually called CHILD syndrome. It is a very rare genetic disease present from birth. It mainly affects one side ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects Syndrome. Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Congenital hemidysplasia with ichthyosiform erythroderma and limb defects is usually called CHILD syndrome. It is a very rare genetic condition. “Congenital” means present at birth. “Hemidysplasia” ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)CHILD Syndrome Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. CHILD syndrome is a very rare genetic disease that starts before birth. It mainly affects one side of the body. The name “CHILD” is an English short form (acronym) that stands for Congenital ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Chilblain Lupus Erythematosus Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Chilblain lupus erythematosus is a rare type of lupus that mainly affects the skin of fingers, toes, heels, ears, and nose. It causes red-purple, swollen, painful patches or small lumps that appear ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Chikungunya Hemorrhagic Fever Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Chikungunya hemorrhagic fever is a very rare and very severe form of chikungunya virus infection. Chikungunya is a virus spread by Aedes mosquitoes and usually causes high fever and very painful ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Chikungunya Fever Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Chikungunya fever is an infection caused by the chikungunya virus, which is a type of RNA virus in the alphavirus group. The virus spreads to people mainly through the bite of infected Aedes ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Chiari Type II Malformation Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Chiari type II malformation is a birth defect in the back part of the brain and upper spine. In this condition, parts of the cerebellum (the balance part of the brain), the brainstem, and the fourth ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Arnold–Chiari Malformation Type 1 Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Arnold–Chiari malformation type 1 (often called Chiari I) is a problem in the back part of the head where the skull is a bit too small or shaped in an unusual way, so the lower part of the brain is ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Arnold Chiari Type I Malformation Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Arnold Chiari type I malformation (often called Chiari type 1) is a problem with the shape and size of the back part of the skull. The space at the back of the skull (posterior fossa) is too small or ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Chiari Type I Malformation Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Chiari type I malformation is a problem in the place where the brain meets the spinal cord. In this condition, the lower part of the brain called the cerebellar tonsils hangs down through a natural ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Generalized Enchondromatosis with Platyspondyly Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Generalised enchondromatosis with platyspondyly is an extremely rare bone growth problem. It means that many small benign (non-cancer) cartilage tumours, called enchondromas, grow inside many bones, ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Cheirospondyloenchondromatosis Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Cheirospondyloenchondromatosis is a very rare bone disease that starts very early in life, often in babies or young children. It belongs to a group of diseases called enchondromatoses, where many ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Cheilitis Glandularis Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Cheilitis glandularis is a rare, long-lasting inflammation that mainly affects the lower lip. In this condition, the many tiny salivary glands inside the lip become bigger and overactive. They make ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Hereditary Leukomelanopathy Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Hereditary leukomelanopathy is an old medical name that is now mostly used as another name for Chediak–Higashi syndrome (CHS). It is a very rare disease that a child is born with. The word ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Hereditary Gigantism of Cytoplasmic Organelles Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Hereditary gigantism of cytoplasmic organelles is an old scientific way to describe a rare inherited disease now known as Chediak–Higashi syndrome (CHS). In this disease, some tiny bags inside cells, ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Granulation Anomaly of Leukocytes Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Granulation anomaly of leukocytes is a rare genetic disease where the white blood cells have huge, abnormal granules (tiny packets) inside them. These strange granules stop the cells from killing ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Chediak–Steinbrinck–Higashi Syndrome Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Chediak–Steinbrinck–Higashi syndrome, usually called Chediak–Higashi syndrome (CHS), is a very rare genetic disease that mainly affects the immune system, skin, eyes, blood, and nerves. It is present ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Chediak-Steinbrinck-Higashi Syndrome Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Chediak-Steinbrinck-Higashi syndrome (usually called Chediak-Higashi syndrome or CHS) is a very rare inherited disease. It affects the body’s immune system, the color of the skin, hair and eyes, the ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Beguez-Cesar Disease Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Beguez-Cesar disease is an older name for a rare inherited immune system disorder that doctors now usually call Chediak–Higashi syndrome (CHS). In this disease, some cells in the body, especially ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Chediak-Higashi Syndrome (CHS) Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Chediak-Higashi syndrome (CHS) is a very rare inherited disease. It mainly hurts the immune system, the skin, the eyes, the blood, and sometimes the brain and nerves. Children with CHS often have ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Autosomal Recessive Spastic Ataxia Type 6 (ARSACS) Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Autosomal recessive spastic ataxia type 6 (often called ARSACS) is a rare genetic brain and nerve disease that starts in childhood and slowly gets worse over time. It mainly affects the part of the ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Autosomal recessive spastic ataxia of Charlevoix-Saguenay (often shortened to ARSACS) is a rare brain and nerve disease that starts in early childhood and slowly gets worse over time. It mainly ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Charlevoix-Saguenay Spastic Ataxia Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Charlevoix-Saguenay spastic ataxia is a rare genetic brain and nerve disease that mainly affects movement. Doctors also call it ARSACS. In this disease, the brain area that controls balance (the ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Hittner-Hirsch-Kreh Syndrome Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Hittner-Hirsch-Kreh syndrome is a very rare condition in which a baby is born with three main problems together: very small eyes or eye gaps called coloboma, structural heart disease, and permanent ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Hall–Hittner Syndrome Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Hall–Hittner syndrome is another name for the “classic” form of CHARGE syndrome, a rare condition present from birth that affects many parts of the body at the same time. In this condition, a baby is ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Coloboma-Heart Defects-Atresia Choanae-Retardation of Growth and Development-Genitourinary Problems-Ear Abnormalities Syndrome Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome is a rare condition that a baby is born with. It can affect many parts ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)CHARGE Syndrome Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. CHARGE syndrome is a rare genetic condition that is present from birth and affects many parts of the body at the same time. It is called “CHARGE” because each letter stands for a common problem: ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Peroneal Muscular Atrophy of Demyelinating Type Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Peroneal muscular atrophy of demyelinating type is a long-term (chronic) nerve disease where the protective covering of certain nerves (called myelin) slowly gets damaged. These nerves are mostly in ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Inherited Dominant Hypertrophic Neuropathy Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Inherited dominant hypertrophic neuropathy is a long name for a group of nerve diseases where the covering of the nerves becomes thick and damaged because of a gene change that is passed in an ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Hereditary Motor and Sensory Neuropathy Type 1 (HMSN I) Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Hereditary motor and sensory neuropathy type 1 (HMSN I) is a genetic disease that slowly damages the peripheral nerves. These nerves carry signals from the brain and spinal cord to the muscles ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Charcot-Marie-Tooth Neuropathy Type 1 (CMT1) Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Charcot-Marie-Tooth neuropathy type 1 (CMT1) is a lifelong, inherited nerve disease that mainly damages the “covering” (myelin) of the long nerves in the arms and legs. These nerves carry signals for ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Charcot-Marie-Tooth Disease Type I (CMT1) Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Charcot-Marie-Tooth disease type I (CMT1) is a group of inherited nerve diseases that damage the myelin, the “insulation” around the peripheral nerves. These nerves carry signals from the brain and ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)PMP2-Related Hereditary Motor and Sensory Neuropathy Type 1 Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. PMP2-related hereditary motor and sensory neuropathy type 1 is a rare inherited nerve disease that mainly affects the long nerves in the arms and legs. These nerves are called peripheral nerves and ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)PMP2-Related Charcot-Marie-Tooth Neuropathy Type 1 Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. PMP2-related Charcot-Marie-Tooth neuropathy type 1 is a very rare inherited nerve disease. It affects the long nerves in the arms and legs. These nerves carry messages for movement and feeling. In ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)PMP2-Related Charcot-Marie-Tooth Disease Type 1 ( CMT1 / CMT1G) Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. PMP2-related Charcot-Marie-Tooth disease type 1 (often called PMP2-related CMT1 or CMT1G) is a very rare inherited nerve disease. It happens when the PMP2 gene, which makes a small protein in the ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Charcot-Marie-Tooth Disease Demyelinating, Type 1G (CMT1G) Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Charcot-Marie-Tooth disease, demyelinating, type 1G (often written CMT1G) is a rare, inherited nerve disease that slowly damages the long nerves in the arms and legs. These nerves normally carry ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Charcot–Marie–Tooth Neuropathy Dominant Intermediate A (CMTDIA) Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Charcot–Marie–Tooth neuropathy dominant intermediate A (short name: CMTDIA) is a very rare, inherited nerve disease that damages the long nerves in the arms and legs. It mainly affects the ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Charcot-Marie-Tooth Disease Dominant Intermediate II Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Charcot-Marie-Tooth disease dominant intermediate II is a rare inherited nerve disease. It damages the peripheral nerves, which are the long nerves that carry signals between the brain, spinal cord, ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type A (CMTDIA or DI-CMTA) Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Autosomal dominant intermediate Charcot-Marie-Tooth disease type A (CMTDIA or DI-CMTA) is a very rare inherited nerve disease. It affects the “peripheral” nerves. These are the long nerves that carry ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Charcot-Marie-Tooth Disease Axonal, Type 2GG Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Charcot-Marie-Tooth disease, axonal, type 2GG (often shortened to CMT2GG) is a very rare, inherited nerve disease that mainly affects the long nerves in the legs and sometimes the hands. It is an ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Charcot-Marie-Tooth Neuropathy Type 2D (CMT2D) Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Charcot-Marie-Tooth neuropathy type 2D (CMT2D) is a rare inherited nerve disease that mainly affects the small nerves to the hands and feet. It is an “axonal” neuropathy, which means the long ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)ATP1A1-Related Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. ATP1A1-related autosomal dominant Charcot-Marie-Tooth disease type 2 is a rare inherited nerve disease. It happens when there is a harmful change (mutation) in a gene called ATP1A1. This gene gives ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)ATP1A1-Related Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 (CMT2DD) Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. ATP1A1-related autosomal dominant Charcot-Marie-Tooth disease type 2 (often called CMT2DD) is a very rare inherited nerve disease. It mainly damages the “wires” (axons) of the peripheral nerves, ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Charcot-Marie-Tooth Disease Axonal, Type 2DD (CMT2DD) Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Charcot-Marie-Tooth disease, axonal, type 2DD (CMT2DD) is a rare inherited nerve disease. It mainly damages the long nerves that carry signals to and from the feet, legs, hands, and arms. These ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Hereditary Motor and Sensory Neuropathy with Deafness, Intellectual Disability and Absent Sensory Large Myelinated Fibres Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibres is a very rare inherited nerve disease. It affects the long nerves that carry ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Hereditary Motor and Sensory Neuropathy with Deafness, Intellectual Disability and Absent Sensory Large Myelinated Fibers Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibers is a very rare inherited nerve disease. Doctors also call it a special type ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Charcot-Marie-Tooth Disease-Hearing Loss-Intellectual Disability Syndrome Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome is a very rare inherited nerve disease. It affects the nerves that control movement and the nerves that carry sound from the ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Rosenberg-Chutorian Syndrome Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Rosenberg-Chutorian syndrome is an extremely rare genetic nerve disease. It mainly affects three parts of the body at the same time: the ears (hearing), the eyes (optic nerve), and the peripheral ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)PRPS1-Related Charcot-Marie-Tooth Neuropathy X Type 5 Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. PRPS1-related Charcot-Marie-Tooth neuropathy X type 5 (often called CMTX5) is a very rare, inherited nerve disease. It mainly affects the long nerves of the arms and legs, the hearing nerve, and the ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Distal Neurogenic Amyotrophy Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Distal neurogenic amyotrophy is a general medical phrase that means nerve-related muscle wasting that mainly affects the far (distal) parts of the arms and/or legs, such as the hands, forearms, feet, ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Familial Opticoacoustic Nerve Degeneration and Polyneuropathy Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Familial opticoacoustic nerve degeneration and polyneuropathy is a very rare inherited nerve disease in which three main problems happen together: damage to the optic nerves (the nerves for vision), ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Charcot-Marie-Tooth Neuropathy X-linked Recessive 5 (CMTX5) Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Charcot-Marie-Tooth neuropathy X-linked recessive 5 (often shortened to CMTX5) is a very rare inherited nerve disease that mainly damages the long nerves in the arms and legs and also affects hearing ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Charcot-Marie-Tooth Neuropathy X Type 5 Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist Charcot-Marie-Tooth neuropathy X type 5 (often shortened to CMTX5) is a very rare inherited nerve disease. It mainly affects the peripheral nerves, which are the long nerves that carry signals ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)X-Linked Recessive Diseases Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist X-linked recessive diseases are a group of genetic (inherited) diseases caused by a harmful change (variant) in a gene that sits on the X chromosome. Because most boys and men have one X chromosome, ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Charcot-Marie-Tooth Disease X-linked Recessive 5 (CMTX5) Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Charcot-Marie-Tooth disease X-linked recessive 5 (often called CMTX5) is a very rare, inherited nerve disease. It mainly damages the long nerves to the feet, legs, hands, and eyes and the hearing ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Cowchock Syndrome Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Cowchock syndrome is a very rare genetic nerve disease. It mainly affects the long nerves in the arms and legs, the hearing nerve, and sometimes the brain. It causes weakness and wasting of muscles, ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Charcot-Marie-Tooth Neuropathy X Type 4 (CMTX4) Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Charcot-Marie-Tooth neuropathy X type 4 (often written as CMTX4) is a very rare, inherited nerve disease. It mainly damages the long nerves that control movement and feeling in the legs and arms ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Charcot-Marie-Tooth Disease X-linked Recessive 4 with or without Cerebellar Ataxia Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Charcot-Marie-Tooth disease, X-linked recessive, 4, with or without cerebellar ataxia is a very rare inherited nerve disease that mainly affects the long nerves in the arms and legs and sometimes ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Charcot–Marie–Tooth Disease with Deafness and Intellectual Disability Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Charcot–Marie–Tooth disease with deafness and intellectual disability is a very rare genetic nerve disease. It affects the long nerves that control movement and carry messages about sound and ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Axonal Motor Sensory Neuropathy with Deafness and Intellectual Disability Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Axonal motor sensory neuropathy with deafness and intellectual disability is a very rare inherited nerve disease. It mainly affects the long nerves that carry signals from the brain and spinal cord ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Charcot-Marie-Tooth Disease X Linked Recessive 4 Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Charcot-Marie-Tooth disease X-linked recessive 4 (often written as CMTX4) is a very rare inherited nerve disease. It mainly damages the long nerves that carry signals to and from the arms and legs. ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Charcot-Marie-Tooth Neuropathy X-linked Recessive 2 (CMTX2) Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Charcot-Marie-Tooth neuropathy X-linked recessive 2 (often called CMTX2) is a very rare inherited nerve disease that mainly affects the long nerves going to the feet, legs, hands, and arms. These ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Charcot-Marie-Tooth Neuropathy X Type 2 (CMTX2) Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Charcot-Marie-Tooth neuropathy X type 2 (often written as CMTX2) is a very rare, inherited nerve disease. It affects the peripheral nerves. These are the long nerves that carry movement and feeling ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Charcot-Marie-Tooth Disease X-Linked Recessive 2 (CMTX2) Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Charcot-Marie-Tooth disease X-linked recessive 2 (often shortened to CMTX2) is a very rare inherited nerve disease. It mainly damages the long nerves that go from the spinal cord to the feet and ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Charcot-Marie-Tooth Neuropathy X-linked Dominant 6 Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Charcot-Marie-Tooth neuropathy X-linked dominant 6 (often called CMTX6) is a very rare, inherited nerve disease that mainly affects the long nerves in the legs and feet. It causes slow and steady ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Charcot-Marie-Tooth Disease X-linked Dominant 6 (CMTX6) Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Charcot-Marie-Tooth disease X-linked dominant 6 (often shortened to CMTX6) is a very rare, inherited nerve disease that mainly affects the long nerves to the feet, legs, hands, and arms. It belongs ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Charcot-Marie-Tooth Neuropathy X-linked Dominant 1 (CMTX1) Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Charcot-Marie-Tooth neuropathy X-linked dominant 1 (often called CMTX1) is a rare inherited nerve disease that mainly affects the “long wires” of the body, called peripheral nerves. These nerves ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Charcot-Marie-Tooth disease X-linked Dominant Type 1 (CMT1X) Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Charcot-Marie-Tooth disease X-linked dominant type 1 (often called CMTX1 or CMT1X) is a rare inherited nerve disease. It mainly damages the peripheral nerves, which carry messages to and from the ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Charcot-Marie-Tooth Disease Type X Caused by Mutation in GJB1 Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Charcot-Marie-Tooth disease type X caused by mutation in GJB1 (often called CMTX1) is a rare, inherited nerve disease. It mainly damages the “peripheral nerves.” These are the long nerves that carry ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Charcot-Marie-Tooth Disease X-linked Dominant 1 (CMTX1) Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Charcot-Marie-Tooth disease X-linked dominant 1 (often called CMTX1) is a genetic nerve disease. It mainly affects the peripheral nerves, which are the long nerves that carry signals from the spinal ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)X-linked Hereditary Motor and Sensory Neuropathy Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. X-linked hereditary motor and sensory neuropathy is a long-term nerve disease that mainly damages the nerves in the legs, feet, hands, and arms. These nerves carry signals from the brain to the ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Charcot-Marie-Tooth Disease Type X (CMTX1) Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Charcot-Marie-Tooth disease type X (often written as CMTX or CMTX1) is a genetic nerve disease. It mainly affects the peripheral nerves, which are the nerves outside the brain and spinal cord. These ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Hereditary Motor and Sensory Neuropathy with Pyramidal Features Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Hereditary motor and sensory neuropathy with pyramidal features is a very rare nerve disease that runs in families. It affects the long nerves that move the muscles (motor nerves) and the nerves that ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Hereditary Motor an Sensory Neuropathy Type V (HMSN V) Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Hereditary motor and sensory neuropathy type V (HMSN V) is a very rare inherited nerve disease. It affects both the motor nerves (that move muscles) and the sensory nerves (that feel touch, pain, and ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Hereditary Motor and Sensory Neuropathy Type 5 (HMSN type 5) Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Hereditary motor and sensory neuropathy type 5 (HMSN type 5) is a very rare form of Charcot–Marie–Tooth (CMT) disease. Doctors also call it “Charcot–Marie–Tooth disease type 5,” “hereditary motor and ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Charcot-Marie-Tooth (CMT) Disease–Pyramidal Features Syndrome Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Charcot-Marie-Tooth (CMT) disease–pyramidal features syndrome is a rare, inherited nerve disease in which a person has both signs of CMT (damage to the long peripheral nerves in the arms and legs) ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Charcot-Marie-Tooth Disease Type 5 (CMT Type 5) Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Charcot-Marie-Tooth disease type 5 (CMT type 5) is a rare inherited nerve disease that mainly damages the long nerves to the feet, legs, hands, and arms and also affects the “pyramidal tracts,” which ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Cytochrome C Oxidase Assembly Factor–Related Charcot-Marie-Tooth Disease Type 4 (CMT4K) Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Cytochrome c oxidase assembly factor–related Charcot-Marie-Tooth disease type 4 is a very rare inherited nerve disease where the long nerves in the arms and legs slowly stop working well. It is ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Surf1- Related Severe Demyelinating Charcot-Marie-Tooth (CMT) Disease Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Surf1-related severe demyelinating Charcot-Marie-Tooth (CMT) disease is a very rare inherited nerve disease. It mainly damages the long nerves that go from the spinal cord to the feet and hands. ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Charcot–Marie–Tooth Disease Type 4 Caused by Mutation in SURF1 Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Charcot–Marie–Tooth disease type 4 caused by mutation in SURF1 is a group of inherited nerve diseases that slowly damage the peripheral nerves. These nerves carry signals from the brain and spinal ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Autosomal Recessive Demyelinating Charcot-Marie-Tooth Neuropathy Type 4K (CMT4K) Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy type 4K (often shortened to CMT4K) is a very rare inherited disease that affects the peripheral nerves, which are the long nerves that ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4K (CMT4K) Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4K (CMT4K) is a very rare inherited nerve disease that mainly affects the long nerves of the arms and legs. It usually starts in ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Charcot-Marie-Tooth Disease Type 4K (CMT4K) Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Charcot-Marie-Tooth disease type 4K (CMT4K) is a rare inherited nerve disease that mainly damages the long nerves in the arms and legs. It is an autosomal recessive, demyelinating peripheral ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Charcot-Marie-Tooth Neuropathy Type 4J (CMT4J) Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Charcot-Marie-Tooth neuropathy type 4J (CMT4J) is a very rare inherited nerve disease that mainly affects the peripheral nerves, which carry signals between the spinal cord and the muscles and skin. ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Charcot-Marie-Tooth Disease Demyelinating Type 4J (CMT4J) Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Charcot-Marie-Tooth disease demyelinating type 4J (CMT4J) is a rare inherited nerve disease that mainly affects the peripheral nerves, which carry signals between the spinal cord and the muscles and ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Charcot-Marie-Tooth Disease Type 4 Caused by Mutation in the FIG4 Gene Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Charcot-Marie-Tooth disease type 4 caused by mutation in the FIG4 gene is a rare inherited nerve disease. Doctors often call this specific form CMT4J. It affects the peripheral nerves, which carry ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Autosomal Recessive Charcot-Marie-Tooth Disease Type 4 (CMT4) Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Autosomal recessive Charcot-Marie-Tooth disease type 4 (CMT4) is a rare inherited nerve disease that mainly affects the nerves in the arms and legs. These nerves are called peripheral nerves and they ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Charcot–Marie–Tooth Disease Type 4J (CMT4J) Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Charcot–Marie–Tooth disease type 4J (often written CMT4J) is a rare inherited nerve disease that slowly damages the peripheral nerves (the nerves that carry messages between the brain/spinal cord and ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Charcot-Marie-Tooth Neuropathy Type 4H (CMT4H) Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Charcot-Marie-Tooth neuropathy type 4H (CMT4H) is a rare inherited nerve disease. It mainly damages the peripheral nerves, which carry messages between the brain, spinal cord, and the muscles and ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Charcot-Marie-Tooth Disease Demyelinating Type 4H (CMT4H) Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Charcot-Marie-Tooth disease demyelinating, type 4H (CMT4H) is a rare inherited nerve disease. It mainly affects the peripheral nerves, which are the long nerves that carry signals between the brain, ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Charcot-Marie-Tooth Disease Type 4 Caused by Mutation in FGD4 Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Charcot-Marie-Tooth disease type 4 caused by mutation in FGD4 is a very rare inherited nerve disease that mainly affects the long nerves of the legs and arms. It belongs to the CMT4H subtype, which ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4H (CMT4H) Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4H (CMT4H) is a very rare inherited nerve disease that mainly affects the arms and legs. It belongs to the large Charcot-Marie-Tooth ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Autosomal Recessive Charcot-Marie-Tooth Disease Type 4H (CMT4H) Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Autosomal recessive Charcot-Marie-Tooth disease type 4H (CMT4H) is a very rare, inherited nerve disease. It mainly affects the “peripheral nerves,” which are the long nerves that carry signals from ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Charcot-Marie-Tooth Disease Type 4H (CMT4H) Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Charcot-Marie-Tooth disease type 4H (CMT4H) is a rare, inherited nerve disease. It mainly damages the long nerves in the legs and arms. These nerves help muscles move and help you feel touch, pain, ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Hereditary Motor and Sensory Neuropathy Russe Type (HMSN-R) Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Hereditary motor and sensory neuropathy Russe type (HMSN-R, also called Charcot-Marie-Tooth disease type 4G) is a rare inherited disease that slowly damages the peripheral nerves. These nerves carry ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Charcot-Marie-Tooth Neuropathy Type 4G (CMT4G) Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Charcot-Marie-Tooth neuropathy type 4G (CMT4G) is a very rare inherited nerve disease that damages the long nerves in the arms and legs, causing weakness, muscle wasting, and loss of feeling, usually ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Charcot-Marie-Tooth Disease Demyelinating Type 4G (CMT4G) Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Charcot-Marie-Tooth disease demyelinating type 4G (CMT4G) is a very rare inherited nerve disease. It mainly damages the long nerves to the feet and hands, so the first problems are usually weakness ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Charcot-Marie-Tooth Disease Type 4 Caused by Mutation in HK1 Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Charcot-Marie-Tooth disease type 4 caused by mutation in HK1 is better known as Charcot-Marie-Tooth disease type 4G (CMT4G) or hereditary motor and sensory neuropathy-Russe type (HMSN-R). It is a ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Autosomal Recessive Charcot-Marie-Tooth Disease Type 4G (CMT4G) Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Autosomal recessive Charcot-Marie-Tooth disease type 4G (CMT4G) is a very rare inherited nerve disease that mainly affects the peripheral nerves in the arms and legs. These nerves carry signals from ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Charcot-Marie-Tooth Disease Type 4G (CMT4G) Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Charcot-Marie-Tooth disease type 4G (CMT4G) is a rare, inherited nerve disease that mainly affects the peripheral nerves in the legs and arms. It usually starts in early childhood. Children slowly ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Charcot-Marie-Tooth Neuropathy Type 4F (CMT4F) Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Charcot-Marie-Tooth neuropathy type 4F (CMT4F) is a rare, inherited nerve disease. It mainly affects the long nerves that carry signals from the spinal cord to the feet and hands. In CMT4F, a gene ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Charcot-Marie-Tooth Disease Type 4 Caused by Mutation in PRX Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Charcot-Marie-Tooth disease type 4 caused by mutation in PRX is a rare inherited nerve disease. Doctors usually call it Charcot-Marie-Tooth disease type 4F (CMT4F). It mainly damages the peripheral ...