These two videos are from a middle-aged man presenting with progressive bilateral lower limb and right upper limb weakness for few months. In the first video, there are prominent fasciculations over the entire right upper limb. Whilst in the second video, fasciculations can also be noted over both lower limbs, but more prominent on the left leg. Limb power was reduced over the distal muscles of both lower limbs and right arm. There were in addition brisk reflexes throughout and bilateral upgoing plantar reflexes. The patient had absence of any sensory symptoms nor any bulbar symptoms. Family history for a significant neurodegenerative disorder was negative. Investigations including imaging of the cervical spine excluded presence of a significant cervical / lumbosacral radiculopathy causing the symptoms and subsequent nerve conduction and studies and electromyography confirmed the diagnosis of a sporadic, limb-onset amyotrophic lateral sclerosis.
Archive for the ‘Neuromuscular Disorders’ Category
Amyotropic Lateral Sclerosis
Sunday, June 14th, 2015Lower Limb Wasting, Pes Cavus and Clawing of Toes
Tuesday, August 19th, 2014In this photo, there is apparent leg-length discrepancy and wasting of the lower limb muscles – the left side relatively more severe. Typical pes cavus (high-arched foot) are seen on both sides. Clawing of the toes can also be seen. This sign is postulated to be due to a different degree of wasting – the peroneus brevis and tibialis anterior muscles are affected more, whilst the peroneus longus and tibialis posterior muscles are relatively spared. These signs are often seen in chronic neuropathies, such as Charcot-Marie Tooth disease (Hereditary Motor and Sensory Neuropathy Type I) and Friedreich’s Ataxia.
Ulnar Neuropathy
Tuesday, August 19th, 2014These two photos (Figures 1 and 2) show wasting of the left small hand muscles including the interosseous muscles, 3rd and 4th lumbricals and hypothenar muscles. The picture also shows an ulnar claw hand in which there is extension of the metacarpophalangeal joints and flexion of the proximal and distal interphalangeal joints of the 4th and 5th digits. This pattern of wasting is compatible with an ulnar neuropathy.
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- Figure 1
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- Figure 2
Carpal Tunnel Syndrome
Tuesday, August 19th, 2014This patient complained of on and off tingling sensation over the lateral 3 ½ fingers of the right hand. There was wasting of the thenar muscles as noted in this photo. Further testing showed that the thumb abduction and opposition was weak. Tinel’s sign and Phalen’s test was positive. A nerve conduction study was performed, which confirmed the presence of a compressive median neuropathy at the wrist. The patient was diagnosed to have carpal tunnel syndrome of the right hand.
Dermatomyositis
Tuesday, August 19th, 2014This patient presented with a few week history of progressive weakness affecting the four limbs associated with muscle pain. He found it increasingly difficult to lift up his arms to above his shoulder level and also to climb stairs. There was in addition unintentional weight loss of 20 pounds (baseline of 180 pounds) during the past 2 months. Physical examination revealed the presence of a heliotropic skin rash with mild oedema especially prominent over the right eyelids and perioribital tissue. There was in addition presence of Gottron’s papules noted over the knuckles of the hands. Neurological examination revealed prominent bilateral, symmetrical, proximal muscle weakness over all four limbs with preserved distal limb power, normal reflexes and downgoing plantar responses. The patient had significant difficultly standing up from a sitting position and was only able to stand up with assistance by pressing against the handles of the chair. Muscle tenderness was also present. Sensory examination and cranial nerve examination was unremarkable. Subsequent investigations including blood tests for muscle enzymes and electromyography confirmed the presence of an active inflammatory myositis. Together with the skin changes, a diagnosis of dermatomyositis was made. A search for an underlying malignancy was made including blood tests for tumour markers as well as a whole body positron-emission tomography and computed tomography scan. The patient was subsequently diagnosed to have an underlying nasopharyngeal carcinoma resulting in dermatomyositis.
