📋 Common Rare Disease Menu
Angelman Syndrome (AS)
🧠 Types: Neurological
🎯 Impact area: Central Nervous System (CNS)
🧾 Symptoms: developmental delay & severe speech impairments & intellectual disability & recurrent seizures & problems with movement & very happy demeanor accompanied with frequent laughter
🧬 Causes: Loss of function of gene UBE3A, which is responsible for making ubiquitin protein ligase E3A, which plays a crucial role in protein degradation, the development, and the function of nervous system.
💊 Current treatments: Due to the genetic nature of AS, it does not have cure. However, treatments can still ameliorate symptoms of AS. Anti-seizure medicines can reduce seizure. Physical therapy promotes walking and movement. Behavior therapy helps control hyperactivity. Communication or speech therapy can repair language skills.
Learn more about Angelman Syndrome
▶️ Dr. Stormy J. Chamberlain from University of Connecticut explains the Angelman Syndrome.
Huntington's Disease (HD)
🧠 Types: Neurological
🎯 Impact area: Central Nervous System (CNS)
🧾 Symptoms:
Movement symptoms:
Involuntary body movements such as jerking or writhing called chorea & slow or unusual eye movements & troubles with keep balance and movements & troubles with speech and swallowing.
Cognitive symptoms:
Lack of awareness of own behaviors and movements & lack of flexibility and getting stuck with a thought &trouble with organization prioritizing tasks.
Mental Symptoms:
Social withdrawal & fatigue & irritability & thoughts of suicide.
🧬 Causes: HD is mainly caused by the mutation of huntingtin (HTT) gene on chromosome 4, which caused the degeneration of nerves in basal ganglia. It’s a highly inheritable disease. Indeed, if a parent has HD, each of their children has 50% chance of getting HD.
💊 Current Treatments: There is no treatments that can completely eliminate HD. However, tetrabenazine and deuterabenazine are drugs can be used to treat chorea associated with HD. Antipsychotic drugs may also be used for HD patients to reduce hallucinations, delusions, and violent outburst.
Learn more about Hungtinton's Disease
▶️ Look at how Dr. Adys Mendizabal and Dr. Sue Perlman from UCLA department of neurology explain the symptoms of Huntington's disease.
Dravet Syndrome
🧠 Type : Neurological
🎯 Impact area: Central Nervous System (CNS)
🧾 Symptoms: seizures starting in infancy, which are often triggered by fever, heat, or flashing lights & developmental delay & speech and language impairment & motor issues like unsteady gait & hyperactivity and autism-like behaviors.
🧬 Causes: mutations in the SCN1A gene , which encodes a sodium channel in neurons of the brain. SCN1A mutations cause excessive neural excitability in the brain and lead to seizures and other symptoms of Dravet Syndrome.
💊 Current Treatments: there is no cure for Dravet syndrome, but treatments can reduce the extent of seizures, such as anti-seizuere medications. Typically, valproate is used as the first-line medication for Dravet Syndrome patients, and fenfluramine, stiripentol, or clobazam are used as the second-line medication.
Learn more about Dravet Syndrome
▶️ Take a look on how Dr. Julie Ziobro from University of Michigan explains Dravet Syndrome, including its symptoms, treatments, and researches.
Metachromatic Leukodystrophy (MLD)
🧠 Type: Neurological
🎯 Impact area: Mainly Central Nervous System (CNS)
🧾 Symptoms: progressive motor decline and loss of walking ability & peripheral neuropathy & seizures & vision and speech impairment & cognitive declines and behavior changes.
🧬 Causes: mutation occurs in arylsulfatase A (ARSA), an enzyme that breaks down sulfatides, which are a type of sphingolipid in myeline. Mutation of ARSA causes the accumulation of sulfatides, which leads to demyelination in both central and peripheral nervous system.
💊 Current Treatments: Hematopoietic stem cell transplantation (HSCT) and gene therapy can be used to reactivate the activity of ARSA and cure MLD.
Learn more about Metachormatic Leukodystrophy
▶️ Look at how the president of MLD foundation Dean Suhr introduces the treatments for MLD.
Lennox-Gastaut Syndrome
🧠 Type: Neurological
🎯 Impact area: Central Nervous System (CNS)
📊 Diagnosed People: usually children under 4 years old.
🧾 Common Symptoms: Tonic seizures: stiffening of the body, upward eye gaze, dilated pupils, and altered breathing patterns & Atypical absences: staring spells & Atonic seizures: brief loss of muscle tone, which could cause abrupt falls & Myoclonic seizures: sudden muscle jerks & Generalized tonic-clonic seizures: muscle stiffness and rhythmic jerkin & children with LGS usually have learning and communication problems and difficulties to control emotions & some people with LGS may have developmental delays, but the symptoms vary widely.
🔬 Diagnosis: patients will have the mix of several seizures above with periods of frequent seizures and seizure-free periods. Also, patients will experience some degree of impaired intellectual functioning or information processing, along with developmental delays and behavioral disturbances. The data can be seen using electroencephalogram (EEG).
🧬 Causes: 30-35% of individuals cannot find any specific cause. However, they may be potentially caused Brain malformations, Tuberous sclerosis (a rare genetic disorder characterized by the growth of benign tumors in various organs), Perinatal asphyxia (a condition where a newborn baby doesn't receive enough oxygen or blood flow during labor or delivery), Severe head injury, Central nervous system infection, Inherited genetic and inherited degenerative or metabolic conditions.
💊 Current Treatments: Valproate (primary), clobazam, felbamate, lamotrigine, rufinamide, topiramate, and cannabidiol, cannabidiol (Epidolex, derived from marijuana) for individuals ages 2 and older. From other aspects, dietary therapy with the ketogenic diet, vagus nerve stimulation, and epilepsy surgery can be also considered.
Learn more about Lennox-Gastaut Syndrome
▶️ Look a kid Jackson who has LGS and how family support and carings bolster Jackson's life when he encounters epilepsy.
Amyotrophic Lateral Sclerosis (ALS)
🧠 Type: Neurological
🎯 Impact area: Central Nervous System (CNS)
🧾 Symptoms: In early stage, patients will exhibit: Muscle twitches in the arm, leg, shoulder, or tongue; muscle cramps; tight and stiff muscles (spasticity); muscle weakness affecting an arm, a leg, or the neck; Slurred and nasal speech; and difficulty chewing or swallowing. As the disorder processing, the symptoms will become stronger. Eventually, patients will become unable to stand or walk, get in or out of bed on their own, use their hands and arms, or breathe on their own. They will die from respiratory failure.
🧬 Causes: There is no specific cause of it. However, there are certain risk factors. Ages (most commonly develop between the ages of 55 and 75). The disorder seems to happen at random with no clearly associated risk factors and no family history.
💊 Current Treatments: There’s no treatment to reverse damage to motor neurons or cure ALS at this time. But some treatments may slow progression of the disorder, improve quality of life, and extend survival. However, there are several ways to slow them down.
Learn more about Amyotrophic Lateral Sclerosis
▶️ The doctor Stephen Kolb from the Ohio State University explains ALS. Take it look at it to learn more about ALS.
Cervical Dystonia
🧠 Type: Neurological
🎯 Impact area: Central Nervous System (CNS)
🧾 Symptoms: it causes involuntary movements, including spasms (your muscles tighten, feel hard and can’t relax. Your muscles may twitch or make a jerking movement suddenly), tremors (uncontrolled body shaking movement). It causes several posture changes, including rotating (turning) your head; tilting (slightly moving at an angle) your head forward, backward or side to side; bending (curving) your neck and head forward, backward or side to side. These movements can cause pain (a burning sensation) in your shoulders and neck.
🧬 Causes: We don’t know the exact cause of all cases of cervical dystonia.
💊 Current Treatments: it includes: Botulinum toxin injections, oral medications, physical therapy, and deep brain stimulation.
Learn more about Cervical Dystonia
▶️ Look at a patient with severe Cervical Dystonia, including its symptoms and treatments.
Chronic Inflammatory Demyelinating Polyneuropathy (CIDP)
🧠 Type: Neurological
🎯 Impact area: Peripheral Nervous System (PNS)
🧾 Symptoms: loss of reflexes & loss of balance and ability to walk & gradual weakening of the arms and legs & fatigue & tingling in the arms and legs & loss of feeling in the legs and arms.
🧬 Causes: body’s immune system attacks the myelin sheath cells in the peripheral nervous system (PNS). Unlike Guillain-Barré syndrome (GBS), CIPD is a more chronic autoimmune neuropathy rather than acute one.
💊 Current Treatments: Monoclonal antibodies and intravenous or subcutaneous immunoglobulin can also be used to treat CIDP. Plasma exchange can reduce harmful antibodies that attack myelin sheath. Moreover, immunosuppressive drugs and corticosteroids can suppress immune systems and reduce symptoms of CIDP.
Learn more about Chronic Inflammatory Demyelinating Polyneuropathy
▶️ Dr. Vera Bril from the University of Toronto is explaining the symptoms, treatments, importance of earlier diagnosis, and supports for CIDP patients.
Guillain-Barré syndrome (GBS)
🧠 Type: Neurological
🎯 Impact area: Peripheral Nervous System (PNS)
🧾 Symptoms: a pins and needles feeling in the fingers, toes, ankles, or wrists & weakness in the legs that spread to the upper body & unsteady walk & trouble with facial movement such as speaking, chewing, and swallowing & double vision & trouble breathing,
🧬 Causes: body’s immune system attacks the myelin sheath around the nerves in the peripheral nervous system (PNS). This damage of myelin sheath prevents nerves from transmitting signals to the brain. Different from CIDP, GBS is a more acute autoimmune neuropathy, which happens more suddenly.
💊 Current Treatments: unlike most of rare diseases, GBS is curable. Many patients can recover through treatments. Plasma exchange that removes antibodies from the blood is typically used to treat GBS. This is because the pathogenic autoantibodies that attack immune system are typically found in plasma. In addition, immunoglobulin therapy involves injecting healthy antibodies from donors, which can block the harmful antibodies that contribute to GBS.
Learn more about Guillain-Barré Syndrome
▶️ Take a look on how fast GBS can disable a person, which makes it different from CIDP, symptoms, and treatments.
Charcot–Marie–Tooth Disease (CMT)
🧠 Type: Neurological
🎯 Impact area: Peripheral Nervous System (PNS)
🧾 Symptoms: high foot arches & curled toes & hard to lift foot at the ankle & loss of muslce bulk in legs & weakness in legs, feet, and ankles & decreased capacity to run & frequent tripping or falling.
🧬 Causes: the cause is mainly due to the hereditary mutations in peripheral nerves or their myelin sheath. For example, the most common mutation is PMP22 gene duplication, leading to abnormal myelin production. Therefore, abnormal myelin production leads to slow axonal conduction and impairs signal transmission in the PNS.
💊 Current Treatments: since CMT is a hereditary mutation in PNS, it cannot be cured, but treatments can ameliorate symptoms and improve patients’ life quality. For example, patients may experience nerve pains. Thus, gabapentin, pregabalin, and duloxetine may be used to reduce neuropathic pains. Additionally, patients with CMT may experience high foot arches and difficulty in walking; thereby, Ankle–foot orthoses (AFOs) can stablize patients’ gait and foot drop.
Learn more about Charcot-Marie-Tooth Disease
▶️ Look at a CMT patient explains her symptoms and the mission of CMT Research Foundation.
Spinal Muscular Atrophy
🧠 Types: Neurological
🗂️ Classification:
SMA type 0 (congenital SMA) affects fetus before birth. Before birth, there is typical decreased fetal movements. After birth, infants typically undergo severe muscle weakness and respiratory failure and die within the first month.
SMA type 1 is the most common type in all SMA and consists 60 % of diagnosis of SMA. SMA type 1 is also called Werdnig-Hoffman disease. The symptoms of SMA type usually emerge within the first six months of infants and consist of limited head control and decreased muscle tone. Infants with type 1 SMA typically die before 2 years old.
SMA type 2 also called Dubowitz disease begin to emerge between 6 to 18 months and generally include hypotonia and worsening muscle weakness. Approximately 70 % of type 2 SMA can survive util 25.
SMA type 3 also called Kugelbert-Welander disease emerge after 18 months of life and is a mild form of SMA. People with SMA type 3 usually don’t have respiratory issue, and thus SMA type 3 usually affect people’s life expectancy.
SMA type 4 is the mildest form SMA and affect adults. It typically emerge after age 21 and does not affect life expectancy.
🧾 Symptoms:
SMA type 0: severe muscle weakness & severe breathing issues & decreased muscle tone & Arthrogryposis & decreased fetal movements
SMA type 1: inability to sit without support & hypotonia & limited head control & abnormal breathing pattern & difficulty swallowing & lack of reflexes
SMA type 2: hypotonia and areflexia & progressive muscle weakness & scoliosis & muscle weakness in chest & joint contractures
SMA type 3: progressive muscle weakness that affects childs’ legs
SMA type 4: mild muscle leg weakness
🧬 Causes: all types of SMA are due to th emutation in the SMN1 (survival motor neuron 1). SMN1 produces SMN protein, which is a key protein for the survival of motor neurons. Mutation in SMA1 gene results in nonfunctional SMN protein, leading to the death of motor neurons.
💊 Current Treatments: physical therapy may be used to improve posture, prevent joint immobility, and slow muscle weakness & occupational therapy can be used to improve the ability of performing daily tasks & therapy for speech and swallowing difficulties.
▶️ This is a video about Sam's story. She is a person with SMA type 2 and accepts a new treatment for SMA.
Friedreich's Ataxia (FA)
🧠 Types: Neurological
🎯 Impact Area: Spinal cord (part of CNS), cerebellum, Peripheral Nervous System (PNS), and heart
🧾 Symptoms: muscle weakness or involuntary jerking & loss of balance or coordination & loss of touch or feelings in legs or arms & fatigue & decreased reflexes & slow or slurred speech and difficulty swallowing & vision and hearing loss & scoliosis (curved of the spine).
🧬 Causes: The cause is typically due to the mutation of FXN gene, which codes for frataxin, a protein that plays a key role in mitochondria. Loss of the function of frataxin disrupts mitochondria from doing its job and leads to the symptoms of FA.
💊 Treatments: physical therapy may be used for patients with FA to improve their muscle strength, balance, and coordination. Specifically, resistance bands, seated leg presses, and step-ups may be used & speech therapy could also be used to enhance patients’ slow or slurred speech. Drug omaveloxolone was approved by FDA in 2023 to treat FA. Specifically, omaveloxolone activates Nrf2 pathway and improve mitochondrial function and reduce oxidative stress.
Learn more about Friedreich's Ataxia
▶️ Look at the story of Sam, who has FA.
Rett Syndrome
🧠 Type: Neurological
🧾 Symptoms: loss of movements and coordination skills: children develop normally for the first 6 to 18 months, and they gradually lose their ability to use their hands in purposeful ways & loss of communication skills: children may intially develop community skills, but as Rett Syndrome proceeds, they would lose their ability to speak & difficulty in swallowing & muscle weakness & problems performing familiar movements (apraxia) & repeated movements like wringing, squeezing, or clapping
🧬 Causes: the most common case of Rett Syndrome is due to the mutation of gene called MECP2 on X chromosome. That’s why Rett Syndrome especially affects females. The mutation of MECP2 gene leads to non-function MECP2 protein, a protein that holds the synapse and helps brain function. If MECP2 protein is not functional, Rett Syndrome may occur.
💊 Current treatments: like most rare diseases, Rett Syndrome cannot be cured currently. However, some treatments can still improve life quality of patients with Rett Syndrome. Speech therapy may be used to improve patients’ communication skills. Physical therapy is used to enhance patients’ motor skills such as gait and balance.
Learn more about Rett Syndrome
▶️ Look at how does living with Rett Syndrome like by looking at Gabby's story
Myasthenia Gravis
🦴 Type: Muscuskeletal
🧾 Symptoms: Muscle weakness in your arms, hands, fingers, legs and neck; fatigue; droopy eyelids; double vision; limited facial expressions; difficulty speaking, swallowing or chewing; trouble walking.
🧬 Causes: it is caused by an error in how nerve signals are sent to muscles, specifically when communication between the nerve and muscle is interrupted at the neuromuscular junction. A genetic change can also cause the syndrome. Immune system may function in a mistaken way, which can be associated with myasthenia gravis.
💊 Treatments: There is no known cure for myasthenia gravis. Fortunately, most people with myasthenia gravis live to an average life expectancy.
Learn more about Myasthenia Gravis
▶️ Look at a more specific introduction of Myasthenia Gravis.
Duchenne Muscular Dystrophy (DMD)
🦴 Type: Musculoskeletal
🧾 Symptoms: muscle weakness and loss of muscle bulk & difficulty in climbing stairs and running toe walking & developmental delay & frequent falls & fatigue & increase in calf muscle size.
🧬 Causes: mutations in DMD gene on X chromosome, leading to nonfunctional Dystrophin, a key structural protein in muscle fibers. This eventually leads to muscle damage during contraction and DMD's symptoms.
💊 Current Treatments: there is no cure for DMD, but steroid medications that slow down muscle damages, gene-based therapy that produce functional but not perfect dystrophin, and physical therapy may help ameliorate symptoms and support DMD patients.
Learn more about Duchenne Muscular Dystrophy
▶️ Look at the video about one of the most severe forms of inherited muscular dystrophies—Duchenne Muscular Dystrophy.
Osteogenesis Imperfecta (OI)
🦴 Type: Musculoskeletal
🧾 Symptoms: weak bones that break easily & bone pain & bone deformities & curved spine & white part of eye turns blue & hearing loss & bruising easily.
🧬 Causes: mutations in COL1A1 or COL1A2, which encode the α1 or α2 chains of type I collagen, the major structural protein in bone. Mutations of these genes lead to abnormal bone structures and the symptoms of OI.
💊 Current Treatments: there is not way to completely cure for OI, but treatments can improve patients’ conditions. Occupational therapy that helps with everyday task, physical therapy that improves muscle strength, and surgery that implements metal rods to support fragile or curved bones can help increase patients’ bone strength.
Learn more about Osteogenesis Imperfecta
💬 "Just plan out your future and just get through it"
Look at Eli's story, a boy with Osteogenesis Imperfecta but living with positivity.
Achondroplasia
🦴 Type: Musculoskeletal
🧾 Symptoms: shortened arms and legs & large head & curved lower spine & bowed lower legs & flat, short, and broad feet & developmental delay
🧬 Causes: mutations of gene FGFR3 makes FGFR3 overactive, leading to high growth inhibition and Defective Endochondral Ossification.
💊 Current Treatments: physical therapy, surgical interventions, and growth hormone therapy can be used for Achondroplasia.
Learn more about Achondroplasia
▶️ Look at what to expect to a children with Achondroplasia.
Alpha-1 Antitrypsin Deficiency (AATD)
🫁 Type: Respiratory
🧾 Symptoms: the symptoms of AATD tend to emerge as patients enter middle age (30-50). These symptoms are mainly breath-related, including wheezing, shortness of breath, chronic cough with sputum, frequent infections like flu or cold, tiredness and fatigue. If AATD also happens in liver, patients’ symptoms may also include tiredness, weight loss, loss of appetite, yellowish discoloration of the skin, blood vomiting, and blood in stools. Severe symptoms are AATD can be life-threatening.
🧬 Causes: AATD is caused by the mutation in SERPINA1, which encodes for a protein called alpha-1 antritrypsin (AAT). AAT is a serine protease inhibitor, which is typically produced in liver. Normally, infection elicits the accumulation of neutrophil elastase, which plays a crucial role in microbial killing and promoting inflammation. AAT as a serine protease inhibitor will inhibit the activity of neutrophil elastase as infection diminishes. If the level of AAT decreases due to SERPINA1’s mutation, neutrophil elastase will remain its activities and damage lung tissues, which leads to AATD. It should also be noted that severe AATD can lead to decrease in gas exchange surface area, decrease in elastic recoil, and increase in airway collapse during exhalation, which are the hallmarks of Chronic Obstructive Pulmonary Disease (COPD).
💊 Current Treatments: AAT augmentation therapy (weekly intravenous infusion of purified human AAT) & bronchodilators & inhaled corticosteroids & avoid smoking.
Learn more about Alpha-1 Antitrypsin Deficiency
▶️ Take a look the video on how Dr. Caroline Jouhourian explains Alpha-1 Antitrysin Deficiency, including types of AATD alleles, common symptoms, diagnosis, and therapies.
Primary Ciliary Dyskinesia (PCD)
🫁 Type: Respiratory
🧾 Symptoms: neonatal respiratory distress & chronic wet coughs & hearing loss & recurrent ear infections & chronic nasal congestion and sinusitis & Bronchiectasis in later childhood & Situs inversus (in around 50% patients).
🧬 Causes: mutations of genes encoding for cilia are responsible for PCD, including DNAH5, DNAI1, CCDC39, CCDC40, and so on. It is an inherited autosomal recessive pattern. Mutations of these genes lead to defects in cilia, which hinders the body from clearing mucus and pathogens in the airways.
💊 Current Treatments: airway clearance therapy (removes mucus and other harmful secretions from the lung) & antibiotics (cure for acute infections) & hearing aids & ear tube (for chronic otitis media).
Learn more about Primary Ciliary Dyskinesia
▶️ Dr. Stephanie Davis and Dr. Thomas Ferkol explain what is Primary Ciliary Dyskinesia.
Cystic Fibrosis (CF)
🫁 Type: Respiratory
🧾 Symptoms: chronic productive cough & recurrent lung infections & bronchiectasis & nasal polyps, chronic sinusitis & progressive respiratory failure
🧬 Causes: CF is an autosomal recessive disorder caused by the mutation in CFTR gene, which encodes for a chlorine channel protein of epithelial cells of the lungs and other organs. The most common mutation is ΔF508, leading to a misfolded and non-functional protein. This eventually leads to thick and sticky mucus, which clogs airways.
💊 Current Treatments: airway clearance & mucolytics, bronchodilators, and antibiotics & pancreatic enzyme replacement therapy (PERT) & CFTR modulators.
Learn more about Cystic Fibrosis
▶️ This is a video about a NEW HOPE for Cystic Fibrosis! 🌟
Idiopathic Pulmonary Arterial Hypertension (IPAH)
🫁 Type: Respiratory
📊 Disease Background: IPAH is one group of Pulmonary Hypertension (PH), which has five groups in total according to WHO classification. IPAH is a PH that does not have a clear cause and is considered as a rare lung disease, whereas other four groups have relatively clear causes and are not typically considered rare. (Learn more about the classification of Pulmonary Hypertension)
🧾 Common Symptoms (similar to asthma, COPD, and other rare diseases): shortness of breath (dyspnea) & weakness or fatigue & chest pain or chest pressure & palpitations (feeling of racing or fluttering heartbeat) & dizziness or lightheadedness & bluish lips or skins
🔬 Diagnosis: since the symptoms of IPAH is really similar to other respiratory diseases like asthma or COPD, patients with IPAH are often easily misdiagnosed. Therefore, to diagnose IPAH, doctors first need to make sure the disease is Pulmonary Hypertension (PH) and exclude other groups of PH.
🧬 Causes: IPAH is a group of PH with unknown causes.
💊 Current Treatments: calcium channel blockers such as diltiazem and nifedipine (only used to patients with vasoreactivity testing positive) & endothelin receptor antagonists (ERAs) such as bosentan and ambrisentan & phosphodiesterase-5 inhibitors (PDE-5i).
Learn more about Idiopathic Pulmonary Arterial Hypertension
▶️ IPAH may be first hard to understand its classification, symptoms, and treatments. Take a look at this video to get more clarifications about IPAH.
Mitochondrial Diseases
⚡ Type: Metabolic
🧾 Symptoms: it is a series of diseases cause by defects in mitochondria. Mitochondrial myopathy: muscle fatigue, weakness, exercise intolerance. The severity of any of these symptoms varies greatly from one person to the next, even within the same family. & Mitochondrial encephalomyopathy: it can affect the eye and parts of the brain involved
in vision, causing vision loss. Migraine headaches and seizures is another symptom. Hearing loss is another common symptom of mitochondrial disorders. It is caused by damage to the inner ear or to the auditory nerve, which connects the inner ear to the brain. It can cause ataxia, which refers to trouble with balance and coordination. People with ataxia are prone to falls and may need to use supportive aids such as railings, a walker, or a wheelchair. In some cases, mitochondrial disorders can lead to issues with breathing, heart health, kidney issues, diabetes, or digestive problems.
🧬 Causes: The diseases are caused by mutation in mitochondria. However, many cases are sporadic, meaning that they occur without any family history. Risk factors include Type 1 diabetes, cancer, multiple sclerosis, and Alzheimer’s disease, leading to secondary mitochondrial disease.
💊 Current Treatments: There is no known cure for Mitochondrial Diseases
Learn more about Mitochondrial Disease
▶️ Look a specific explanation about mitochondrial disease.