📋 Relative Rare Disease Menu
Autism Spectrum Disorder
🧠 Type: Neurological
🤔 Why easily overlooked and misdiagnosed: Autism is a spectrum disorder, ranging from relatively mild symptoms such as subtle social communication to considerable impairments. Therefore, mild symptoms of autism such as limited eye contact, playing alone, and repetitive movements may be recognized as personality or mood problems rather than as autism. In addition, the symptoms of autism may overlap with other disorders such as ADHD and social anxiety disorder, which share similar symptoms with autism.
🧾 Symptoms:
Social Symptoms: don’t respond to their names & prefer to play alone instead of being cuddling & have poor eye contact & delayed speech or even lose the ability to say words & speak with unusual tone or rhyme & repeat words but don’t know how to use them & do not understand simple questions & become passive, impulsive while in social interaction
Common behaviors: repetitive movements & engage in activities that can hurt themselves & create routines and become upset when changing & have unusual body languages & become clumsy and move in patterns that are unusual & fascinated with details & sensitive to lights or sounds but not to temperature or pains & don’t mimic others and participate in make-believe play & prefer specific foods
🧬 Causes:
Genetics causes: several genes may seem to relate with autism spectrum disorder. For some children, autism spectrum disorder may relate to a genetic condition such as Rett Syndrome. For some other children, genes may affect the severity of the symptoms and how brain communicate.
Environmental causes: viral infections, medicines, and conditions during pregnancy may induce the development of autism spectrum disorder.
💊 Current Treatments: behavior and developmental interventions such as Applied Behavior Analysis (ABA) may help reduce the symptoms & speech and language therapy may help improve children’s communication skills & occupational therapy helps children maintain skills for daily activities.
Attention-Deficit Hyperactivity Disorder
🧠 Type: Neurological
🤔 Why easily overlooked and misdiagnosed: the symptoms of ADHD may overlap with other disorders. For example, inattention demonstrated in ADHD is shared with depression or social anxiety disorder. In addition, Hyperactivity in ADHD may be also regarded as a personality problem in children instead of as ADHD. Moreover, the severity of ADHD's symptoms can vary based on different settings. For example, children can show different level of symptoms depending on time of day, level of interest in tasks, and structured vs. unstructured environments. These natures of ADHD can mask caregivers and physicians from identifying ADHD in children.
🧾 Symptoms:
Inattention Symptoms: failing to pay close attention to details or make careless mistakes & having trouble to stay in focus & having hard time to follow instructions & having trouble to stay in organized & easily lose items needed for schoolwork & being easily distracted by other things & forgetting to do daily activities.
Hyperactivity Symptoms: talking too much & having trouble to do activities silently & blurting out answers and interrupting the questioner & staying in active & run around and climb in not proper situations.
🧬 Causes: genetics, environmental conditions, and central nervous system conditions may all play a role in the development of ADHD.
💊 Current Treatments: behavior and psychosocial interventions such as parent training in behavior management and organization skills management may help children stay in organized & medications such as methylphenidate can enhance attention and reduce hyperactivity & cognitive behavior therapy (CBT) may help children manage their thoughts, emotions, and problem-solving skills.
Restless Leg Disorder (RLD)
🧠 Type: Neurological
🤔 Why easily overlooked and misdiagnosed: the symptoms to move legs can be wrongly attributed to discomfort rather a behavioral problem. Additionally, caregivers and physicians may attribute RLS to sleeping anxiety, poor bed routines, and behavioral resistance in children. Moreover, since children or adults may not clearly articulate their symptoms of RLS, physicians may misunderstand RLS as growing pains, peripheral neuropathy, arthritis, and muscle cramps. The last but not least, physicians and caregivers lack the awareness to RLS.
🧾 Symptoms: having strong urge to move the legs when feeling uncomfortable in the legs & symptoms becoming worse while resting such as sitting or lying & symptoms may be relieve by activities such as walking or stretching & symptoms becoming worse at night & symptoms cannot be explained by a single condition
🧬 Causes: Primary RLS may occur due to genetic causes, central nervous system dopamine dysfunction, and iron deficiency in the brain & secondary RLS may emerge because of iron deficiency anemia, chronic kidney disease (e.g uremia), pregnancy, etc.
💊 Current Treatments: medicines affecting calcium channels such as gabapentin may help relieve the symptoms of RLS & given that iron deficiency may have implications in the development of RLS, treating iron deficiency by taking iron supplement by mouth may help reduce the symptoms of RLS & electrical stimulation of a nerve on the side of your knee may help RLS symptoms.
Learn more about Restless Leg Syndrome
Essential Tremor (ET)
🧠 Type: Neurological
🤔 Why easily overlooked and misdiagnosed: the symptoms of ET develop gradually, and earlier tremors may occur only in specific situations such as holding a item. These natures of ET may let caregivers and physicians misunderstand ET as a demonstration of fatigue or anxiety. The symptoms of ET are similar ti Parkinson's disease, both of them sharing tremors. Therefore, physicians may misdiagnose ET as Parkinson's disease. Moreover, mild tremors are common in old people. Thus, tremors due to ET may be attributed to the normal process of aging.
🧾 Symptoms: tremors occur when you move and become less severe while in the rest & medicines, stress, or caffeine can make tremors worse & alcohol may induce tremors & tremors don’t affect both sides of your body in the same way & tremors tend to exacerbate as you age & tremors most obvious in your hands & difficulty in doing tasks such as writing or using tools & uncontrollable head-nodding.
🧬 Causes: ET is an autosomal dominant pattern (if a parent has ET, each child has 50% chance of inheriting ET) & environmental factors such as neurotoxin factors, lifestyle factors, and aging may all play a role in the development of ET.
💊 Current Treatments: medicines such as propranolol and primidone are common used to reduce tremors & Botulinum Toxin Injections may used for patients with head, voice, and limb tremors & deep brain stimulation (DBS) and MRI-guided Focused Ultrasound (FUS) Thalamotomy are also used to treat ET.
Learn more about Essential Tremor
Obsessive Compulsive Disorder (OCD)
🧠 Type: Neurological
🤔 Why easily overlooked and misdiagnosed: the symptoms of OCD are largely invisible, especially for obsession. Obsessive thoughts are unknown to other people, making OCD hard to discover and be diagnosed. In addition, the symptoms of OCD resemble those of other diseases. For example, inattention in OCD due to obsessive thoughts occupying available mind space may be wrongly regarded as the demonstration of ADHD. Repetitive movements in OCD due to compulsion may also be wrongly regarded as Tics, which are the symptoms of Tourette Syndrome.
🧾 Symptoms:
Obsessions (intrusive, unwanted thoughts, images, or urge that cause distress): doubts (e.g. Did I lock the door?) & fear of contamination (chemicals, germs, bodily fluids) & need for symmetry or exactness & intrusive violent or sexual thoughts
Compulsions (repetitive behaviors or mental acts performed to reduce distress): excessive washing or cleaning & checking doors, appliance, written work & arranging objects in a specific order & counting, tapping, or repeating words silently.
🧬 Causes: biological factors (genetics and neurotransmitters), psychological factors (maladaptive about responsibilities or overestimation about threats), and environmental factors (stress or certain infections) may all play a role in OCD.
💊 Current Treatments: exposure and response prevention (ERP) gradually exposes patients to feared thoughts but prevents compulsive behaviors & cognitive behavior therapy (CBT) may be used to correct the distorted beliefs of OCD and teach coping strategies & SSRIs (selective serotonin reuptake inhibitors) like fluoxetine may used to treat OCD since over amounts of serotonin may induce obsession & deep brain stimulation (DBS) and transcranial magnetic stimulation (TMS) may also be used for OCD.
Learn more about Obsessive-Compulsive Disorder