Rx Neurology (A - Z)Neuropathy Hereditary Motor and Sensory Type 1C Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Neuropathy hereditary motor and sensory type 1C is usually called Charcot–Marie–Tooth disease type 1C (CMT1C). It is a rare, inherited nerve disease that mainly damages the long nerves of the legs ...
Rx Neurology (A - Z)Charcot-Marie-Tooth Neuropathy Dominant Intermediate B Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist Charcot-Marie-Tooth neuropathy, dominant intermediate B (often shortened to CMTDIB) is a very rare inherited nerve disease that mainly affects the long nerves going to the feet, legs, hands, and ...
Rx Neurology (A - Z)Charcot-Marie-Tooth Neuropathy Type 2X Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist Charcot-Marie-Tooth neuropathy type 2X (often grouped under X-linked Charcot-Marie-Tooth disease, or CMTX) is a rare inherited nerve disease that mainly affects the peripheral nerves in the legs, ...
Rx Neurology (A - Z)Hereditary Adult-Onset Painful Axonal Polyneuropathy Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Hereditary adult-onset painful axonal polyneuropathy is a rare inherited nerve disease. It mainly affects the long nerves in the legs and sometimes the arms. These nerves slowly become damaged along ...
Rx Neurology (A - Z)Hereditary Adult-Onset Painful Axonal Polyneuropathy Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Hereditary adult-onset painful axonal polyneuropathy is a very rare inherited nerve disease. It mainly damages the long “wires” (axons) of the peripheral nerves that carry signals to and from the ...
Rx Neurology (A - Z)Charcot-Marie-Tooth Neuropathy Type 2U (CMT2U) Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Charcot-Marie-Tooth neuropathy type 2U (CMT2U) is a very rare inherited nerve disease where the long nerves in the arms and legs slowly become damaged, especially their axons (the “wires” that carry ...
Rx Neurology (A - Z)Charcot-Marie-Tooth Neuropathy Type 2T (CMT2T) Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Charcot-Marie-Tooth neuropathy type 2T (CMT2T) is a very rare, inherited nerve disease. It mainly damages the axons (the long “wires”) of the peripheral nerves, which carry signals between the spinal ...
Rx Neurology (A - Z)Charcot-Marie-Tooth Neuropathy Type 2S (CMT2S) Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Charcot-Marie-Tooth neuropathy type 2S (CMT2S) is a rare inherited nerve disease that mainly damages the long nerves in the arms and legs. It is an “axonal” form of Charcot-Marie-Tooth (CMT), which ...
Rx Neurology (A - Z)Charcot-Marie-Tooth Neuropathy Type 2G (CMT2G) Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Charcot-Marie-Tooth neuropathy type 2G (CMT2G) is a very rare inherited nerve disease. It mainly damages the long nerves that carry signals to and from the legs, feet, arms, and hands. Doctors call ...
Rx Neurology (A - Z)Charcot-Marie-Tooth Neuropathy Axonal Type 2O Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Charcot-Marie-Tooth neuropathy axonal type 2O (often shortened to CMT2O) is a rare inherited nerve disease that mainly affects the long nerves to the legs and arms. It belongs to the “axonal” group ...
Rx Neurology (A - Z)Charcot-Marie-Tooth Disease Axonal Type 2O (CMT2O) Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Charcot-Marie-Tooth disease axonal type 2O (CMT2O) is a very rare inherited nerve disease that mainly affects the long nerves going to the feet and hands. Doctors call this a “hereditary motor and ...
Rx Neurology (A - Z)Charcot-Marie-Tooth Neuropathy Type 2N (CMT2N) Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Charcot-Marie-Tooth neuropathy type 2N (CMT2N) is a rare, inherited nerve disease that mainly affects the long nerves in the legs and, later, the arms. It is an axonal form of Charcot-Marie-Tooth ...
Rx Neurology (A - Z)Charcot-Marie-Tooth Neuropathy Axonal Type 2N (CMT2N) Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Charcot-Marie-Tooth neuropathy axonal type 2N (often written CMT2N) is a rare inherited nerve disease. It mainly damages the long nerves that control movement and feeling in the feet, legs, hands, ...
Rx Neurology (A - Z)Charcot-Marie-Tooth Disease Axonal Type 2N (CMT2N) Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Charcot-Marie-Tooth disease axonal type 2N (CMT2N) is a rare inherited nerve disease that mainly damages the long “wires” of the nerves, called axons. It usually affects the nerves of the feet and ...
Rx Neurology (A - Z)Charcot-Marie-Tooth Neuropathy Type 2L (CMT2L) Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Charcot-Marie-Tooth neuropathy type 2L (CMT2L) is a rare inherited nerve disease. It mainly damages the long nerves that carry signals to and from the legs and, later, the hands. These nerves sit ...
Rx Neurology (A - Z)Charcot-Marie-Tooth Disease Axonal Type 2K (CMT2K) Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Charcot-Marie-Tooth disease axonal type 2K (CMT2K) is a rare inherited nerve disease. It mainly damages the long nerves that carry signals between the spinal cord and the muscles and skin (peripheral ...
Rx Neurology (A - Z)Charcot-Marie-Tooth Disease Axonal Type 2H (CMT2H) Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Charcot-Marie-Tooth disease axonal type 2H (CMT2H) is a very rare inherited nerve disease. It mainly damages the long “wiring” parts of the nerves (axons) that carry signals between the spinal cord ...
Rx Neurology (A - Z)Charcot-Marie-Tooth Neuropathy Type 2F (CMT2F) Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Charcot-Marie-Tooth neuropathy type 2F (CMT2F) is a rare inherited nerve disease. It mainly damages the long “wires” of the peripheral nerves, called axons. These nerves carry signals between the ...
Rx Neurology (A - Z)Charcot-Marie-Tooth Disease Axonal Type 2F (CMT2F) Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Charcot-Marie-Tooth disease axonal type 2F (CMT2F) is a rare, inherited nerve disease. It mainly damages the long “wires” of the peripheral nerves, called axons. These nerves carry signals from the ...
Rx Neurology (A - Z)Hereditary Motor and Sensory Neuropathy Type IIc (HMSN2C) Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Hereditary motor and sensory neuropathy type IIc (HMSN2C) is a very rare inherited nerve disease that mainly damages the long nerves to the arms and legs and also nerves to the voice box and ...
Rx Neurology (A - Z)Congenital Insensitivity to Pain–Anosmia–Neuropathic Arthropathy Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Congenital insensitivity to pain–anosmia–neuropathic arthropathy is a very rare genetic nerve disease. In this condition, a person is born unable to feel physical pain in a normal way, they cannot ...
Rx Neurology (A - Z)Late Infantile Neuronal Ceroid Lipofuscinosis Caused by Mutation in CLN6 Gene Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Late infantile neuronal ceroid lipofuscinosis (NCL) caused by a mutation in the CLN6 gene is a rare, inherited brain disease in children. It belongs to a group of diseases called neuronal ceroid ...
Rx Neurology (A - Z)Ceroid Lipofuscinosis Neuronal, 6a Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Ceroid lipofuscinosis, neuronal, 6a (often called CLN6 disease or CLN6A) is a rare inherited brain disease. It belongs to a family of conditions called neuronal ceroid lipofuscinoses (NCLs), also ...
Rx Neurology (A - Z)Lipofuscinosis Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Lipofuscinosis is a group of rare diseases where waste material called lipofuscin builds up inside cells, especially in brain and eye cells. Lipofuscin is a mix of fats and proteins that should be ...
Rx Neurology (A - Z)Neuronal Ceroid Lipofuscinosis 4, Parry Type Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Neuronal ceroid lipofuscinosis 4, Parry type (often shortened to CLN4 disease or Parry type NCL) is a very rare inherited brain disease. It belongs to a family of conditions called neuronal ceroid ...
Rx Neurology (A - Z)Intracranial Arteriovenous Malformation Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Intracranial arteriovenous malformation is a problem in the blood vessels inside the brain where an artery connects directly to a vein without a normal tiny “filter” network of capillaries in ...
Rx Neurology (A - Z)Cerebellar Ataxia-Ectodermal Dysplasia Syndrome Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Cerebellar ataxia-ectodermal dysplasia syndrome is a very rare genetic condition that affects both the brain (especially the cerebellum) and ectodermal structures, such as hair and teeth. Children ...
Rx Neurology (A - Z)Early Plasmacytoid Dendritic Cell Leukemia/Lymphoma Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Early plasmacytoid dendritic cell leukemia/lymphoma” is most often the same disease doctors now call blastic plasmacytoid dendritic cell neoplasm (BPDCN). It is a rare, fast-growing blood cancer made ...
Rx Neurology (A - Z)Cayman Type Cerebellar Ataxia Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist Cayman type cerebellar ataxia (often shortened to “Cayman ataxia”) is a rare inherited brain development condition that starts from birth or very early infancy. It mainly affects the cerebellum, the ...
Rx Neurology (A - Z)Cerebral Myiasis Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist Cerebral myiasis means fly larvae (maggots) infest tissue in or around the brain. It is extremely rare. In most reported cases, larvae get access through an open scalp wound, a head injury, or a ...
Rx Neurology (A - Z)Spongy Degeneration of the Brain Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Spongy degeneration of the brain means the brain’s white matter (the wiring that carries messages) develops many tiny fluid-filled holes and becomes soft and swollen. In Canavan disease this happens ...
Rx Neurology (A - Z)Spongiform Leucodystrophy Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Spongiform leucodystrophy is a rare brain disease. It mainly affects babies and young children. “Leuco-” means white, and “dystrophy” means damage or poor growth. In this disease, the white matter of ...
Rx Neurology (A - Z)Canavan–Van Bogaert–Bertrand Disease (Canavan Disease) Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Canavan disease is a rare, inherited brain disorder in which the white matter (the “insulation” around nerve fibers called myelin) is damaged and does not develop normally. Babies often seem normal ...
Rx Neurology (A - Z)Aminoacylase-2 Deficiency Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Aminoacylase-2 deficiency—the condition better known today as Canavan disease (aspartoacylase deficiency) is a rare, inherited brain disease. Doctors now call it Canavan disease. It happens when the ...
Rx Neurology (A - Z)C11ORF73-Related Autosomal Recessive Hypomyelinating Leukoencephalopathy Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. C11ORF73-related autosomal recessive hypomyelinating leukoencephalopathy is a rare genetic brain white-matter disease. “Hypomyelinating” means the brain does not lay down normal myelin (the fatty ...
Rx Neurology (A - Z)Trigonocephaly C Syndrome Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Trigonocephaly C syndrome (often shortened to C syndrome or Opitz trigonocephaly syndrome / OTCS) is an ultra-rare genetic condition. The key sign is trigonocephaly—a triangular-shaped forehead from ...
Rx Neurology (A - Z)Opitz Trigonocephaly C Syndrome (C Syndrome) Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Opitz trigonocephaly C syndrome is an ultra-rare genetic condition. Babies are born with a triangular-shaped forehead because the metopic suture (the seam in the middle of the forehead) closes too ...
Rx Neurology (A - Z)Opitz C Trigonocephaly Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist. Opitz C trigonocephaly, also called C syndrome or Opitz trigonocephaly syndrome, is a very rare genetic condition. The front seam of the skull (the metopic suture) closes too early. This makes the ...
Rx Neurology (A - Z)Birk-Barel Syndrome Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Birk-Barel syndrome is a very rare, inherited brain-development disorder caused by changes in a single gene called KCNK9. This gene makes a potassium “leak” channel called TASK-3 that helps brain ...
Rx Neurology (A - Z)Biotin-Thiamine-Responsive Basal Ganglia Disease (BTBGD) Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Biotin-thiamine-responsive basal ganglia disease is a rare, inherited brain disorder. It damages deep movement-control centers in the brain called the basal ganglia. The disease happens when both ...
Rx Neurology (A - Z)Biotin-Responsive Basal Ganglia Disease (BRBGD) Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Biotin-responsive basal ganglia disease is a rare, inherited brain energy problem. It happens when brain cells cannot move enough thiamine (vitamin B1) into the cells where it is needed for making ...
Rx Neurology (A - Z)Primary Familial Brain Calcification (PFBC) Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Primary familial brain calcification (PFBC) is a rare, inherited brain condition. In PFBC, tiny hard deposits made of calcium form in certain deep areas of the brain. These areas often include the ...
Rx Neurology (A - Z)Cerebrovascular Ferrocalcinosis Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Cerebrovascular ferrocalcinosis means there is abnormal build-up of minerals—mainly calcium and often iron-related deposits—within the walls of small blood vessels and the tissues around them inside ...
Rx Neurology (A - Z)Bilateral Striopallidodentate Calcinosis (BSPDC) Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Bilateral striopallidodentate calcinosis (BSPDC) is a rare brain condition where calcium-rich deposits build up on both sides of deep brain areas that control movement and thinking—especially the ...
Rx Neurology (A - Z)Bilateral Polymicrogyria Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Bilateral polymicrogyria is a problem in how the brain’s surface (the cortex) forms before birth. In PMG, the brain makes too many very small folds (gyri), and the normal layers of brain cells are ...
Rx Neurology (A - Z)Bilateral Parasagittal Parieto-Occipital Polymicrogyria (BPPo-PMG) Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Bilateral parasagittal parieto-occipital polymicrogyria (BPPo-PMG) is a rare brain-development problem where the cortex forms too many tiny folds (polymicrogyria) along the midline (parasagittal) ...
Rx Neurology (A - Z)Microcephaly, Short Stature, and Polymicrogyria with Seizures Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Microcephaly, short stature, and polymicrogyria with seizures describes a child with three key features. First, the head size is small for age and sex (microcephaly). Doctors measure this with a tape ...
Rx Neurology (A - Z)Diffuse Polymicrogyria (PMG) Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Diffuse polymicrogyria (PMG) is a brain-development problem in which the outer layer of the brain (the cortex) forms too many very small folds and the normal layers of the cortex are not organized in ...
Rx Neurology (A - Z)Bilateral Generalized Polymicrogyria (BGP) Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Bilateral generalized polymicrogyria (BGP) is a brain development problem that starts before birth. In BGP, the outer layer of the brain (the cortex) forms too many small folds and the layers inside ...
Rx Neurology (A - Z)Frontoparietal Polymicrogyria (FPP) Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Frontoparietal polymicrogyria (FPP) is a problem in how the brain’s outer layer (the cortex) formed before birth. “Polymicrogyria” means “many small folds.” In FPP, these extra, tiny folds mainly ...
Rx Neurology (A - Z)Complex Cortical Dysplasia with Other Brain Malformations 14A Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Complex cortical dysplasia with other brain malformations 14A, often shortened to CDCBM14A, is a rare, inherited brain-development disorder. Before birth, the outer layer of the brain (the cortex) ...
Rx Neurology (A - Z)Bilateral Frontal Polymicrogyria (BFPMG) Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Bilateral frontal polymicrogyria is a rare brain malformation that forms before birth. “Polymicrogyria” means “too many small folds” on the brain surface. In this condition, the problem affects both ...
Rx Neurology (A - Z)Otitic Hydrocephalus Syndrome Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Otitic hydrocephalus is a rare, serious complication of a middle-ear or mastoid infection in which pressure inside the skull (intracranial pressure) rises even though brain scans show no mass ...
Rx Neurology (A - Z)Nonne’s Syndrome Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Nonne–Froin (Froin’s) syndrome happens when CSF can’t move freely because something is blocking the spinal canal or severely irritating the meninges (the coverings of the brain and spinal cord). CSF ...
Rx Neurology (A - Z)Noninfective Serous Meningitis Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Noninfective serous meningitis means inflammation of the meninges (the thin coverings of the brain and spinal cord) with no bacteria growing on routine cultures and with no proven infectious agent as ...
Rx Neurology (A - Z)Benign Familial Neonatal-Infantile Seizures 1 (BFNIS1) Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Benign Familial Neonatal-Infantile Seizures 1 (BFNIS1) is a genetic epilepsy syndrome in which seizures start very early in life—anytime from the first days after birth up to a few months—and then ...
Rx Neurology (A - Z)Benign Angiitis of the Central Nervous System Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Benign angiitis of the central nervous system means inflammation of blood vessels inside the brain and spinal cord. “Benign” is an old word and not accurate, because the illness can be serious. The ...
Rx Neurology (A - Z)Familial Cortical Myoclonic Tremor with Epilepsy (FCMTE) Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Familial cortical myoclonic tremor with epilepsy is a rare, inherited brain disorder. It causes tiny, shock-like muscle jerks that look like a shaky tremor, mostly in the hands and fingers. These ...
Rx Neurology (A - Z)Behrens-Baumann–Dust Syndrome Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Behrens-Baumann–Dust syndrome is a very rare, inherited condition that mainly affects the eyes and the brain. It was first described in two siblings who had small eyes (microphthalmos), missing optic ...
Rx Neurology (A - Z)Behavioral Variant Frontotemporal Dementia (bvFTD) Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Behavioral variant frontotemporal dementia (bvFTD) is a progressive brain disorder that mainly damages the frontal and temporal lobes, the regions that control behavior, judgment, empathy, ...
Rx Neurology (A - Z)Basilar Artery Migraine with Brainstem Aura Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Migraine with brainstem aura is a kind of migraine where the warning signs (called aura) come from the brainstem—the deep part of the brain that helps control balance, hearing, eye movements, speech, ...
Rx Neurology (A - Z)Basilar Migraine (Migraine with Brainstem Aura) Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Basilar migraine is the older name for migraine with brainstem aura. It is a migraine in which the “warning phase” (the aura) comes from the brainstem—an area that controls balance, speech, hearing, ...
Rx Neurology (A - Z)Basal Ganglia Calcification, Idiopathic, Childhood-Onset Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Basal ganglia calcification, idiopathic, childhood-onset means calcium-like deposits build up inside deep brain areas called the basal ganglia (and sometimes the thalamus, cerebellum, and cortex) in ...
Rx Neurology (A - Z)Salt-Losing Tubular Disorder Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Salt-losing tubular disorder (often called salt-losing nephropathy) means the kidneys’ tiny tubes (tubules) cannot reabsorb enough salt (mainly sodium and chloride) back into the blood. Because too ...
Rx Neurology (A - Z)COFS Syndrome Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist COFS syndrome is a very rare, inherited, progressive disorder that starts before birth and affects the brain, eyes, face, and skeleton. Babies are usually born with a small head (microcephaly), joint ...
Rx Neurology (A - Z)Cerebro-Oculo-Facial-Lymphatic Syndrome Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Cerebro-oculo-facial-lymphatic syndrome (COFLS) is a very rare condition first described in medical journals in which the brain (cerebro-), eyes (oculo-), face (facial), and lymphatic system (which ...
Rx Neurology (A - Z)Baraitser–Winter Cerebrofrontofacial Syndrome (BWCFF) Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Baraitser–Winter cerebrofrontofacial syndrome is a rare genetic condition that affects how the face, eyes, brain, and other parts of the body develop before birth. Children and adults with this ...
Rx Neurology (A - Z)Band Heterotopia of Brain Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Band heterotopia is a birth-time (congenital) problem in brain development. In early pregnancy, new brain cells (neurons) are supposed to travel outward to form the brain’s outer layer (the cerebral ...
Rx Neurology (A - Z)Concentric Sclerosis Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Concentric sclerosis is a rare disease where the body’s immune system attacks the white matter (myelin) in the brain in a very special pattern—alternating rings of damaged and relatively preserved ...
Rx Neurology (A - Z)Concentric Demyelination Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Concentric demyelination means myelin (the insulation around nerve fibers) is lost in round, ring-like layers. On MRI and under the microscope, you see alternating bands: a ring with lost myelin, ...
Rx Autoimmune, Genetic and Rare Diseases (A - Z)Azorean Disease of the Nervous System Dr. Reem Saadeh Haddad, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Azorean Disease of the Nervous System is an inherited brain and nerve disorder that gradually affects balance, walking, speech, and eye movements. The main problem is ataxia, which means “lack of ...
Rx Neurology (A - Z)Azorean Disease Dr. Reem Saadeh Haddad, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Azorean disease (Machado-Joseph disease/SCA3) is a rare, inherited brain disorder that slowly affects balance, walking, speech, eye movements, and fine hand control. It runs in families in an ...
Rx Neurology (A - Z)SYT14-Related Autosomal Recessive Syndromic Cerebellar Ataxia (SCAR11) Dr. Reem Saadeh Haddad, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist SYT14-related autosomal recessive syndromic cerebellar ataxia is a rare inherited brain disorder. It mainly affects the cerebellum, the part of the brain that controls balance, coordination, and ...
Rx Neurology (A - Z)Autosomal Recessive Syndromic Cerebellar Ataxia Caused by Mutation in SYT14 (SCAR11) Dr. Reem Saadeh Haddad, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Autosomal recessive syndromic cerebellar ataxia caused by mutation in SYT14 (SCAR11) is a rare, inherited brain disorder that mainly affects the cerebellum, the part of the brain that controls ...
Rx Neurology (A - Z)Psychomotor Delay Syndrome Dr. Reem Saadeh Haddad, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Psychomotor Delay Syndrome means a child is slower than most children their age to do movement and thinking skills such as rolling, sitting, walking, speaking, using hands, playing, learning, or ...
Rx Neurology (A - Z)Autosomal Recessive Spinocerebellar Ataxia 11 (SCAR11) Dr. Reem Saadeh Haddad, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Autosomal Recessive Spinocerebellar Ataxia 11 (SCAR11) is a very rare genetic brain disorder that mainly damages the cerebellum, the part of the brain that controls balance, posture, eye movements, ...
Rx Neurology (A - Z)Spinocerebellar Ataxia (SCA) Dr. Reem Saadeh Haddad, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Spinocerebellar ataxia (SCA) is a group of rare, inherited brain disorders. In SCA, parts of the brain that control balance and coordination—especially the cerebellum—slowly get damaged. Over time, ...
Rx Neurology (A - Z)Autosomal Recessive Spinocerebellar Ataxia 10 (SCAR10) Dr. Reem Saadeh Haddad, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Autosomal recessive spinocerebellar ataxia 10 (SCAR10) is a rare, inherited brain disorder that mainly affects the cerebellum—the part that coordinates balance, speech, and eye movements. It is ...
Rx Neurology (A - Z)Autosomal Recessive Complex Spastic Paraplegia Caused by Mutations in CAPN1 Dr. Reem Saadeh Haddad, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Autosomal recessive complex spastic paraplegia caused by mutations in CAPN1 is a rare inherited nerve disorder. It mainly makes the legs stiff and tight (spastic), so walking becomes hard. Many ...
Rx Neurology (A - Z)Microcephalia Vera Dr. Reem Saadeh Haddad, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Microcephalia vera” means “true microcephaly.” Doctors used this older term for babies who are born with a much smaller head because the brain did not grow normally before birth. Today, we usually ...
Degenerative Bones, Joints, and Spine Care (A - Z)Gallbladder Cancer – Causes, Symptoms & Treatment Options Dr Muhammad Zakria Introduction Gallbladder cancer is a rare but serious disease that develops when cancerous (malignant) cells form in the tissues of the gallbladder a small organ located just beneath the liver. ...
Degenerative Bones, Joints, and Spine Care (A - Z)Liver Cancer: Symptoms, Causes, Treatment, and Prognosis Dr Muhammad Zakria Introduction Liver cancer is one of the most challenging cancers worldwide, known for its aggressive nature and often late diagnosis. The liver, a vital organ responsible for ...
Rx Neurology (A - Z)Intermediate Charcot–Marie–Tooth Disease Dr. Reem Saadeh Haddad, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Intermediate Charcot–Marie–Tooth disease is a group of inherited nerve disorders that slowly damage the long nerves to the legs and arms. The intermediate form sits between the “demyelinating” (slow ...
Rx Neurology (A - Z)Severe Infantile Axonal Neuropathy with Respiratory Failure Type 1 Dr. Reem Saadeh Haddad, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Severe infantile axonal neuropathy with respiratory failure type 1 is a very rare inherited nerve disease that begins in early infancy. It mainly damages the long “wires” of motor and sensory nerves ...
Rx Neurology (A - Z)Neuronopathy Distal Hereditary Motor Harding Type 6 Dr. Reem Saadeh Haddad, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Distal hereditary motor neuronopathy, Harding type VI (often shortened to dHMN VI or HMN VI), is a rare, inherited nerve disease. It mainly damages the motor nerve cells that control movement in the ...
Rx Neurology (A - Z)Autosomal Recessive Cerebellar Ataxia due to GBA2 (Glucosylceramidase Beta 2) Deficiency Dr. Reem Saadeh Haddad, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Autosomal recessive cerebellar ataxia due to GBA2 deficiency is a rare, inherited brain disorder. It mainly affects the cerebellum, the part of the brain that controls balance and coordinated ...
Rx Neurology (A - Z)Autosomal Recessive Neuromyotonia and Axonal Neuropathy Dr. Reem Saadeh Haddad, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Autosomal recessive neuromyotonia and axonal neuropathy is a rare, inherited nerve disease. It starts in childhood or the teen years. It damages the axons (the long wires) of peripheral nerves. ...
Rx Neurology (A - Z)Autosomal Dominant Slowed Nerve Conduction Velocity Dr. Reem Saadeh Haddad, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Autosomal dominant slowed nerve conduction velocity means a person inherits (from one parent) a gene change that damages the myelin covering of peripheral nerves. Because myelin is the insulation ...
Rx Neurology (A - Z)Optic Atrophy Type 8 (OPA8) Dr. Reem Saadeh Haddad, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Optic atrophy type 8 (OPA8) is a hereditary eye and nerve condition where the optic nerves slowly waste away, causing vision to decline—usually starting in late childhood or the teenage years. OPA8 ...
Rx Neurology (A - Z)Autosomal Dominant Sleep-Related Hyperkinetic Epilepsy (ADSHE) Dr. Reem Saadeh Haddad, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Autosomal dominant sleep-related hypermotor (hyperkinetic) epilepsy (ADSHE; formerly ADNFLE) is an inherited epilepsy where brief, sudden, often repetitive motor seizures happen mainly during sleep. ...
Rx Neurology (A - Z)Distal Renal Tubular Acidosis (Type 1 RTA) Dr. Reem Saadeh Haddad, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Distal renal tubular acidosis (often shortened to “distal RTA” or “type 1 RTA”) is a kidney problem where the last part of the kidney tubule (the distal tubule and collecting duct) cannot get rid of ...
Rx Neurology (A - Z)Charcot-Marie-Tooth neuropathy type 2W (CMT2W) Dr. Reem Saadeh Haddad, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Charcot-Marie-Tooth neuropathy type 2W (CMT2W) is a rare, inherited nerve disorder. It mainly damages the long “wires” of the peripheral nerves—called axons—that carry signals to and from the legs, ...
Rx Neurology (A - Z)Charcot–Marie–Tooth Neuropathy (CMT) Dr. Reem Saadeh Haddad, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Charcot–Marie–Tooth (CMT) is a group of inherited nerve disorders that slowly damage the long nerves of the arms and legs. These nerves carry signals that let your muscles move and your skin feel ...
Rx Neurology (A - Z)Autosomal Dominant Hereditary Ataxia Dr. Reem Saadeh Haddad, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Autosomal dominant hereditary ataxia is a group of inherited brain disorders where the main problem is loss of balance and coordination because parts of the brain that control movement—especially the ...
Rx Neurology (A - Z)Autoimmune Enteropathy Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Autoimmune enteropathy is a rare disease where the immune system attacks the lining of the small intestine. The attack makes the villi (tiny finger-like absorptive projections) flatten. This causes ...
Rx Neurology (A - Z)Atypical Progressive Supranuclear Palsy (PSP) Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Atypical progressive supranuclear palsy (PSP) is a brain disease where certain cells slowly get damaged by an abnormal protein called 4-repeat tau. This damage makes eye movements slow or difficult ...
Rx Neurology (A - Z)Atypical Juvenile Parkinsonism Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Atypical juvenile parkinsonism means parkinsonism that starts in children, teens, or very young adults and does not look like the “typical” adult Parkinson’s disease pattern. “Parkinsonism” is a ...
Rx Neurology (A - Z)Spinocerebellar Ataxia Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Spinocerebellar ataxia is an umbrella term for a large group of mostly inherited brain disorders that primarily damage the cerebellum (the coordination center) and its connections to the spinal cord ...
Rx Neurology (A - Z)Ataxia-Telangiectasia (A-T) Variant Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Ataxia-Telangiectasia (A-T) variant is a rare, inherited condition. It affects the brain (especially the cerebellum), the immune system, the lungs, and cancer defenses. “Variant” means symptoms start ...
Rx Neurology (A - Z)Inflammation of the Arachnoid Mater Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Arachnoiditis means the thin middle lining around your spinal cord—the arachnoid membrane—gets inflamed. This lining normally protects the nerves and lets spinal fluid flow smoothly. When it becomes ...
Rx Neurology (A - Z)Chronic Arachnoiditis Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Chronic arachnoiditis means long-lasting inflammation and scarring of the arachnoid, a thin covering around the spinal cord and nerve roots. Over time, the inflamed tissues can stick together ...
Rx Neurology (A - Z)Adhesive Arachnoiditis Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Adhesive arachnoiditis is a long-lasting inflammation and scarring problem of the arachnoid—the thin, spider-web-like layer that covers your spinal cord and the bundle of nerve roots inside the ...
Rx Neurology (A - Z)Arachnoiditis Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Arachnoiditis is long-lasting inflammation of the arachnoid membrane, which is one of the thin coverings that protect the spinal cord and spinal nerves. When this lining gets inflamed, scar tissue ...
Rx Neurology (A - Z)Arachnoid Cysts Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist An arachnoid cyst is a pocket (sac) filled with clear fluid that looks and behaves like cerebrospinal fluid (CSF), the liquid that cushions the brain and spinal cord. The cyst forms within or beneath ...
Rx Neurology (A - Z)Aprosencephaly– Cerebellar Dysgenesis (ACD) Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Aprosencephaly–cerebellar dysgenesis (ACD) is a very rare, severe brain malformation present from early pregnancy. In ACD, the baby’s forebrain (prosencephalon)—which normally forms the cerebral ...
Rx Neurology (A - Z)Exencephaly Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Exencephaly is a very severe birth defect of early brain development. In exencephaly, the top bones of the skull (the cranial vault) do not form. Because the skull is missing, the developing brain is ...
Rx Neurology (A - Z)Craniorachischisis Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Craniorachischisis is the most severe kind of neural tube defect (NTD). In this condition, the skull and brain do not form and close properly (anencephaly), and the spinal canal also stays open along ...
Rx Neurology (A - Z)Holoanencephaly Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Holoanencephaly means total anencephaly—the baby’s brain does not form at all, and the skull cap is missing. It is the most severe form within the anencephaly spectrum. Anencephaly happens when the ...
Rx Neurology (A - Z)Meroanencephaly Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Meroanencephaly is a rare, “partial” form of anencephaly, a severe open neural tube defect (NTD) where parts of the skull and brain do not form normally. In meroanencephaly, the top midline of the ...
Rx Neurology (A - Z)Anencephaly Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Anencephaly is a severe type of neural tube defect (NTD). In early pregnancy, the “neural tube” should close and form the baby’s brain and spinal cord. In anencephaly, the upper part of this tube ...
Rx Neurology (A - Z)Acute Necrotizing Encephalopathy Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Acute Necrotizing Encephalopathy—often shortened to ANE—is a rare but very serious brain illness that usually starts suddenly during or just after a feverish infection (most often a virus like ...
Rx Neurology (A - Z)Lumbosacral Plexus Neuralgic Amyotrophy Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist Lumbosacral plexus neuralgic amyotrophy is a sudden-onset nerve inflammation that hits the nerve network in the lower back and pelvis (the lumbosacral plexus). People develop very strong pain in the ...