Infantile Onset
A pregnant patient is found to have reduced HEXA enzyme activity. She reports that her nephew died at 2 years old after losing his milestones and having seizures.
What is Tay-Sachs Disease?
Gene: HEXA
You meet a patient who has Kayser-Fleischer rings and liver disease. They say their aunt has psychiatric issues and a movement disorder.
What is Wilson Disease?
Gene: ATP7B
A 45 year old patient frequently trips over curbs and has trouble walking up stairs. They report calf weakness, but have no concerns about the strength of their neck or other muscles.
What is Becker Muscular Dystrophy?
Gene: DMD
After experiencing psychiatric symptoms for several years, patients experience progressive chorea, loss of voluntary movement, and other abnormal movements. As the condition progresses, patients experience cognitive decline and personality changes.
What is Huntington's Disease?
Gene: HTT (CAG repeats)
A patient with atrophy in their legs, feet, and hands has noticed high arches and hammer toes on their feet. They are experiencing progressive neuropathy in their arms and legs and weakness in their hands and feet.
What is Charcot-Marie-Tooth?
Gene: PMP22 or 17p duplication
A young boy begins experiencing weakness and weight loss. He begins vomiting and his parents bring him to the ER. There, he falls into a coma. His dad says he's never seen anyone in his family with this before.
What is X-Linked Adrenoleukodystrophy (XLALD)?
Gene: ABCD1
A 6 year old patient is referred by their pediatrician for 10 cafe-au-lait macules and learning disability. Upon further evaluation, they have 2 neurofibromas. The patient's mom has Lisch nodules in her eye and a history of breast cancer.
What is Neurofibromatosis Type 1 (NF1)?
Gene: NF1
A 5 year old patient is reported to have an awkward gait which has not improved after PT for gross motor delay. They have a Gower sign when going from sitting to standing. There is no family history of these symptoms.
What is Duchenne Muscular Dystrophy?
Gene: DMD (2/3 chance mom is a carrier when there is no family history)
A 55 year old patient is experiencing atypical cognitive decline that affects their memory, thinking, and behavior. Their mother was diagnosed with dementia at age 60.
What is Early Onset Familial Alzheimer's Disease?
Gene: APP, PSEN1, PSEN2
A patient experiences recurrent weakness, numbness, and pain along their nerves. This episodic neuropathy can last minutes to months, and can cause permanent weakness and loss of sensation overtime.
What is Hereditary Neuropathy with Liability to Pressure Palsies?
Gene: PMP22 (deletion!)
A baby is born with hypotonia, eye anomalies, and cobblestone lissencephaly. As they grow up, they experience developmental delays and have seizures. They also experience symptoms consistent with a muscular dystrophy.
What is Walker Warburg Syndrome?
Gene: POMT1 and POMT2
A 30 year old patient with tinnitus, balance issues, and a glioma was seen in clinic. They have a parent with hearing loss, tinnitus, and balance issues that required surgery.
What is Neurofibrmatosis Type 2 (NF2)?
Gene: NF2
This condition is caused by deletions or LoF of a gene that results in the degeneration of anterior horn cells. Copy number analysis must be paired with sequencing to estimate the chance that someone is a silent carrier.
What is Spinal Muscular Atrophy?
Gene: SMN1
While only 10-15% of patients with this condition have a known genetic cause, all individuals are affected with progressive motor decline, difficulty breathing or swallowing, and cognitive or behavioral symptoms. Some patients can also experience a pseudobulbar affect.
What is Amyotrophic Lateral Sclerosis (ALS)?
Gene: C9orf72, SOD1, ALS1-14
There are six types of this condition which are characterized by muscle weakness, feeding and swallowing difficulties, foot deformities, scoliosis, and joint deformities.
What is Nemaline Myopathy?
Gene: NEB and ACTA1 + more
A baby has hypotonia and respiratory insufficiency, and passes away shortly after birth. When you meet the baby's mother, she has minor baldness, reports cardiac conduction issues, and has a hard time reopening her hand after opening her water bottle.
What is Myotonic Dystrophy?
Gene: DMPK (CTG repeats)
What is Tuberous Sclerosis?
Gene: TSC1 and TSC2 (2/3 de novo)
A patient with an elevated CK, waddling gait, and trouble raising their arms is seen in clinic. They are referred to cardiology to assess their risk for cardiomyopathy.
What is Limb-Girdle Muscular Dystrophy?
Gene: many
A 20 year old patient with diabetes, cardiomyopathy, and slurred speech is being evaluated in clinic. At 30 years old, they have continued to experience a slow, progressive ataxia.
What is Friedreich's Ataxia?
Gene: FXN (GAA repeats)
Patients with this condition can experience recurrent ischemic strokes, cognitive decline, migraine with aura, and mood disturbances.
What is CADASIL (Cerebral Autosomal Dominant Arteriopathy with Sub-cortical Infarcts and Leukoencephalopathy)?
Gene: NOTCH3