Chediak-Higashi Syndrome (CHS)
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)
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 ...
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)
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 ...
Charlevoix-Saguenay Spastic Ataxia
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 ...
Hittner-Hirsch-Kreh Syndrome
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 ...
Hall–Hittner Syndrome
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 ...
Coloboma-Heart Defects-Atresia Choanae-Retardation of Growth and Development-Genitourinary Problems-Ear Abnormalities Syndrome
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 ...
CHARGE Syndrome
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: ...
Peroneal Muscular Atrophy of Demyelinating Type
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 ...
Inherited Dominant Hypertrophic Neuropathy
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 ...
Hereditary Motor and Sensory Neuropathy Type 1 (HMSN I)
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 ...
Charcot-Marie-Tooth Neuropathy Type 1 (CMT1)
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 ...
Charcot-Marie-Tooth Disease Type I (CMT1)
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 ...
PMP2-Related Hereditary Motor and Sensory Neuropathy Type 1
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 ...
PMP2-Related Charcot-Marie-Tooth Neuropathy Type 1
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 ...
PMP2-Related Charcot-Marie-Tooth Disease Type 1 ( CMT1 / CMT1G)
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 ...
Charcot-Marie-Tooth Disease Demyelinating, Type 1G (CMT1G)
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 ...
Charcot–Marie–Tooth Neuropathy Dominant Intermediate A (CMTDIA)
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 ...
Charcot-Marie-Tooth Disease Dominant Intermediate II
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, ...
Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type A (CMTDIA or DI-CMTA)
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 ...
