Neuropathies 2 Flashcards
What are the 2 main types of hereditary neuropathy ?
- Charcot-Marie-Tooth Disease (CMT)
- Hereditary Neuropathy with Liability to Pressure Palsies (HNPP)
What is Charcot-Marie Tooth Disease (CMT)?
A broad term used to describe a group of inherited neurological disorders characterized by a slowly progressive degeneration of the muscles in the foot, lower leg, hand, and forearm, and a mild loss of sensation in the limbs, fingers, and toes.
Describe the typical signs/symptoms of Charcot-Marie Tooth Disease (CMT)
- Symptoms range in patients from very mild to severe weakness; clinical symptoms generally occur by age 30. The more severe symptoms are related to an earlier age of onset. CMT can progress to extreme weakness, atrophy, and loss of sensation, over time.
- Foot drop (foot can’t be picked up or held horizontal)
- Progressive deformity of leg (“inverted champagne bottle”) or foot (abnormally high arched feet, flat feet, hammer toes)
- Decreased sensation or numbness in the foot or leg
- Awkward gait and balance
- Poor hand coordination
What is Hereditary Neuropathy with Liability to Pressure Palsies (HNPP)?
A hereditary disorder in which a fairly mild pressure or trauma to a single nerve results in episodes or periods of numbness and weakness, similar to an arm or leg going to sleep. Unlike a limb going to sleep for a few seconds, each episode of numbness can last from several minutes to several days or months
What are the signs/symptoms of Hereditary Neuropathy with Liability to Pressure Palsies (HNPP)?
- Weakness—unable to move an entire limb
- Unable to use certain muscles of the arm (can’t reach, wash hair, eat) or hand (difficulty gripping things or grasping small objects) or face
- Episodes of numbness, weakness or tingling that do not go away
- Leg/ankle foot swelling
- Fatigue
- Muscle cramps
- Diminished or absent ankle reflexes
What is Chronic Inflammatory Demyelinating Polyneuropathy (CIDP)?
A rare neurological disorder in which there is inflammation of nerve roots and peripheral nerves and demyelination
What is the typical presentation of CIDP?
- Slowly progressive (over at least 2 months)
- Symmetric weakness of both muscles around the hip and shoulder as well as of the hands and feet (both proximal and distal muscles).
- There are usually some alterations of sensation causing incoordination, numbness, tingling, or prickling sensations. Some patients only have sensory symptoms and signs but have the typical abnormalities of nerve conduction
For all demyelinating neuropathies will Nerve conduction studies be normal ?
No will show reduced conduction
What are the different causes of axonal degeneration neuropathies ?
Idiopathic (age related)
Vasculitic* (often mononeuritis multiplex)
- ANCA +ve
- Rhematoid arthritis/Sjrogens syndrome (ANA/ENA +ve)
- Paraneoplastic
- Myeloma
- Antibody mediated (eg breast cancer/SCLC Anti hu/yo)
Infections
- HIV*
- Syphilis*
- Lyme*
- Hepatis B/C (cryoglobulin mediated)
Drugs/Toxins
- Alcohol
- Amiodarone
- Phenytoin
- Chemotherapy (cisplatin/vincristine)
Metabolic
- Diabetes
- B12/folate deficiencies (other
- Hypothyroidism
- Chronic uremia
- Porphyria
What are the causes of autonomic neuropathies ?
Chronic
- Diabetes (ie gastroparesis)
- Amyloidosis
- Hereditary
Acute
- GBS
- Porphyria
What are the signs of autonomic neuropathy ?
- Postural hypotension
- Erectile dysfunction/ ejaculatory failure
- Decreased sweating
- Constipation
- Nocturnal diarrhoea
- Urine retention
- Horners syndrome
What is the treatment of axonal nueropathy?
- Treat cause (ie clear hepatitis C)
- Symptomatic treatment – physiotherapy, orthotics, neuropathic pain relief.
What is the treatment of axonal vasculitic neuropathy ?
•Pulsed IV methylprednisolone + cyclophosphamide
What is the treatment of inflammatory demyelinating neuropathy (so not GBS)
- IVIg (pooled immunoglobulin from donors)
- Steroids
- Azathioprine, mycophenalate, cyclophosphamide
