Sunday, January 24, 2010
Isolated tibial paralysis
Usually due to lesions below the popliteal space such as gunshot, knife wound, auto accident, or leg fractures. Affects plantar flexion, ankle inversion, foot adduction. Dorsiflexion may be affected due to contractures of the anterior tibialis. Sensation is lost over the heel, lateral border, ungual surfaces, Edema is usual with causalgia, trophic changes, and trophic ulcers. Partial lesions may spare the calf muscles and affect only the muscles of the foot, usually with prominent pain.
Obturator neurpathy
Clinical presentation is weakness of externally rotating, or adducting the thigh, or crossing the legs. Sensory involvement is minor. Small areas of skin over the hip joint and the interior middle of thigh may have sensory loss.
Anatomically, the posterior branch innervates the obturator externa and adductor magnus. The anterior branch innervates the adductor longus and brevis and gracilis. Both come from L2-4 lumbar plexus and are affected by same processes as femoral neuropathy, such as gravid uterus.
Howship-Romberg syndrome (historical) refers to pressure on obturator nerve by a rare obturator hernia. It consists of pain that radiates down the thigh and is most marked at the knee.
Mononeuropathies
this post in intended to spur further of my own research. Reading some of my dad's old 1950's vintage neurology books, mononeuropathies are due to lead poisoning, after typhus, influenza, or malaria. Will need to look up more about postinfectious neuropathies.
Sunday, January 3, 2010
Dystrophinopathy clinical diagnostic pearls in adults
1. BMD (Becker's) may present in adulthood up to age 50+. Like DMD, earliest muscles involved are glutei, thigh abductors, and triceps, followed by quadriceps, deltoids, tibialis anterior, and last, biceps. Neck FLEXOR weakness is common.
2. The use of prednisone, annual cardiac and pulmonary (including sleep testing) evaluations have made children with DMD survive into the third decade.
3. Muscle cramps with aches during exercise are presentations of BMD during and after teenagehood. Isolated quadriceps involvement in the fifth decade may prompt a confusion with inclusion body myositis.
4. Isolated cardiac failure or even transplantation may occur prior to a diagnosis being made. Decreased LVEF or arrythmias are more common in BMD. X linked dilated cardiomyopathy is a rare form restricted to cardiac muscle with completely normal skeletal muscle, due to mutations that only affect the isoforms of cardiac muscle. Endocardial biopsy is required, and there is 50 % five year mortality without transplantation.
5. Other asymptomatic/minimally symptomatic clinical findings include exertional intolerance, elevated CPK, myalgias, myoglobinuria, none of which are mandatory. Other subtleties include calf and tongue hypertrophy, myopathic EMG, history of clumsiness or toe walking as a child, and positive family history.
6. Ten percent of female carriers will be symptomatic, many minimally so, and manifest cases will be more likely to have diagnostic mutation on X chromosome. Some may have negative result, and need to be counselled regarding regarding a mutation only expressed in oocytes (germline mutation). For these patients prenatal testing is available (amniocentesis, eg. and others).
7. Coexisting Turners syndrome (XO) or skewed or nonrandom mutation of an X chromosome can cause full blown disease in a female carrier (DMD phenotype).
8. Cognitive disorders are common see http://behavioralneurologynotes.blogspot.com/2010/01/cognition-and-dystrophinopathy.html
9. Annual PSG (polysomnograms) are needed once patients are nonambulatory. Problems with dream sleep are common.
10. GI issues include GI pseudoobstruction in patients on continuous ventilation. This can be relieved by a regular bowel routine, continual low suction, placement of a second jejunal feeding tube. Late, swallowing issues might include positioning for swallowing, and restricted jaw movement due to masseter involvement.
2. The use of prednisone, annual cardiac and pulmonary (including sleep testing) evaluations have made children with DMD survive into the third decade.
3. Muscle cramps with aches during exercise are presentations of BMD during and after teenagehood. Isolated quadriceps involvement in the fifth decade may prompt a confusion with inclusion body myositis.
4. Isolated cardiac failure or even transplantation may occur prior to a diagnosis being made. Decreased LVEF or arrythmias are more common in BMD. X linked dilated cardiomyopathy is a rare form restricted to cardiac muscle with completely normal skeletal muscle, due to mutations that only affect the isoforms of cardiac muscle. Endocardial biopsy is required, and there is 50 % five year mortality without transplantation.
5. Other asymptomatic/minimally symptomatic clinical findings include exertional intolerance, elevated CPK, myalgias, myoglobinuria, none of which are mandatory. Other subtleties include calf and tongue hypertrophy, myopathic EMG, history of clumsiness or toe walking as a child, and positive family history.
6. Ten percent of female carriers will be symptomatic, many minimally so, and manifest cases will be more likely to have diagnostic mutation on X chromosome. Some may have negative result, and need to be counselled regarding regarding a mutation only expressed in oocytes (germline mutation). For these patients prenatal testing is available (amniocentesis, eg. and others).
7. Coexisting Turners syndrome (XO) or skewed or nonrandom mutation of an X chromosome can cause full blown disease in a female carrier (DMD phenotype).
8. Cognitive disorders are common see http://behavioralneurologynotes.blogspot.com/2010/01/cognition-and-dystrophinopathy.html
9. Annual PSG (polysomnograms) are needed once patients are nonambulatory. Problems with dream sleep are common.
10. GI issues include GI pseudoobstruction in patients on continuous ventilation. This can be relieved by a regular bowel routine, continual low suction, placement of a second jejunal feeding tube. Late, swallowing issues might include positioning for swallowing, and restricted jaw movement due to masseter involvement.
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