Diseases & conditions that are difficult to diagnose in alphabetical order.
A
ADHD in adults: see video: take the pre-test to see if you should seek a proper diagnosis.
Autoimmune Disorders affecting either both nerves and muscles or the liver and gallbladder or blood vessels including arteries and veins or more miscellaneous autoimmune conditions
Autosomal Dominant Leukodystrophy ADLD early symptoms may include low blood pressure, blurred vision, less sweating, bladder problems
ALS Amyotrophic lateral sclerosis also called Lou Gehrig's disease - Early symptoms do not distinguish it from many diseases with muscle weakness.
Diseases & conditions that are difficult to diagnose in alphabetical order.
A
ADHD in adults: see video
Autoimmune Disorders affecting either both nerves and muscles or the liver and gallbladder or blood vessels including arteries and veins or more miscellaneous autoimmune conditions
Autosomal Dominant Leukodystrophy ADLD early symptoms may include low blood pressure, blurred vision, less sweating, bladder problems
ALS Amyotrophic lateral sclerosis also called Lou Gehrig's disease - Early symptoms do not distinguish it from many diseases with muscle weakness.
B
C
Celiac Disease is intolerance of gluten foods and has bowel symptoms like bloating and stomach pain
Complex regional pain syndrome chronic pain condition with changes in the colour and temperature of the skin over affected limb
Dysautonomia disorder of autonomic nervous system - symptoms include fatigue, weakness, pains, dizziness and passing out.
E
F
Fibromyalgia syndrome is a chronic disorder characterized by widespread muscle pain, fatigue, and multiple tender points.
G
H
Hereditary neuropathies are a group of inherited disorders affecting the peripheral nervous system.
Heritable Disorders of Connective Tissue
Hoffman's syndrome enlarged calf muscle with muscle pain, stiffness and cramps
I
Isaacs' Syndrome symptoms include stiffness in the limbs, cramps, twitching of muscles and muscles not relaxing even during sleep. Diagnosis
J
K
L
Lewy Body Dementia Diagnosis Symptoms include Progressive dementia, variations in attention, variations in alertness, visual hallucinations.
Lewy Body Dementia: Hard to Diagnose
M
McArdle’s disease symptoms include fatigue and painful muscle contractions.
Mixed connective tissue disease MCTD symptoms include fatigue, muscle weakness, joint pain, swollen fingers, mild fever
Motor Neuron Diseases or MNDS
Myasthenia gravis MG symptoms include muscle weakness and muscle fatigue
"Myotonic dystrophy, the most common type of MD in adults, affects the eyes, heart, hormonal systems, blood, and muscles." New Test
Myositis sometimes referred to as autoimmune myopathy or inflammatory myopathy or idiopathic inflammatory myositis - symptoms include inflammed aching muscles.
N
Narcolepsy - sleep disorder with daytime drowsiness and involuntary sleep episodes
O
P
Paget's disease also called osteitis deformans
Pemphigus skin disorders with blisters diagnosed by a dermatologist
Pituitary Disorders Why are pituitary disorders so hard to diagnose? Some symptoms include Headaches, Depression, Mood Swings, Memory loss, Sleep problems, Sexual Dysfunction, Weight Gain, Lethargy
Primary lateral Sclerosis symptoms of stiffness and weakness first in legs and then arms and hands
Q
R
Rare Disorders
NORD - National Organization for Rare Disorders
ORPHANET European database
Rare Diseases and Related Terms from NIH, USA
Swedish National Board of Health and Welfare rare disease database
S
Sjogren's Syndrome dry eyes, dry mouth, dry nose, change in sense of taste, vaginal dryness, dry skin sometimes causing itching
T
Tethered spinal cord syndrome often undiagnosed until adulthood, when sensory and motor problems and loss of bowel and bladder control emerge
U
V
Vasculitis is inflammation of the blood vessels, arteries, veins or capillaries. Symptoms depend on the type of vasculitis present. It can cause tender lumps on the skin, open sores and high blood pressure.
Vitamin D Deficiency has numbness, paresthesias, muscle cramps
Von Willebrand's Disease is a hereditary bleeding disorder of bruising and heavy bleeding
W
X
Y
Z
What can you do if you are undiagnosed? Help with pain. Undiagnosed children. Personal stories. List of diseases considered difficult to diagnose. Support forums for the undiagnosed.
