A 12-year-old boy presents to the Outpatient depament with history of progressively increasing difficulty in walking and frequent falls. Physical examination reveals an ataxic gait and nystagmus. All deep tendon reflexes were observed to be absent while the plantar response was ‘Extensor’. What is the most likely diagnosis?
Correct Answer: Friedreich's Ataxia
Description: Answer is A (Friedreich's Ataxia): Friedreich's Ataxia Most common form of Inherited Ataxiae Autosomal Recessive inheritances Caused by an Unstable mutation on chromosomal Mutated gene is called Frataxin Onset between age of 2 and 25 years Examination Extensor Plantar Response with absence of Deep Tendon Reflexes Normal Tone in trunk and extremities Weakness (greater distally than proximally) Loss of vibration and joint position sense Nystagmus, Dysahria, Dysmetria Titubation, Ataxia. Subacute Combined Degeneration of the Cord vitamin B12 deficiency spinal postero-lateral column degeneration bilateral, usually symmetrical posterior column loss joint position & vibration loss ,ataxic gait ,positive Romberg sign ,upper motor neurone signs in the legs usually exaggerated, but occasionally absent, knee reflexes clonus, up-going plantars but, absent ankle reflexes reflexes may be diminished or absent due to sensory dysfunction associated findings i. optic atrophy ii. peripheral sensory neuropathy iii. dementia RX B12 & folate. Tabes dorsalis It is also known as syphilitic myelopathy, is a slow degeneration (specifically, demyelination) of the neural tracts primarily in the dorsal columns (posterior columns) of the spinal cord & dorsal roots. Signs and symptoms may not appear for decades after the initial infection and include weakness, diminished reflexes, paresthesias (shooting and burning pains, pricking sensations, and formication), hypoesthesias (abnormally diminished cutaneous, especially tactile, sensory modalities), tabetic gait (locomotor ataxia), progressive degeneration of the joints, loss of coordination, episodes of intense pain and disturbed sensation (including glossodynia), personality changes, urinary incontinence, dementia, deafness, visual impairment, positive Romberg's test, and impaired response to light (Argyll Robeson pupil). The skeletal musculature is hypotonic due to destruction of the sensory limb of the spindle reflex. The deep tendon reflexes are also diminished or absent; for example, the "knee jerk" or patellar reflex may be lacking (Westphal's sign). Becker muscular dystrophy It is an X-linked recessive inherited disorder characterized by slowly progressive muscle weakness of the legs and pelvis. It is a type of dystrophinopathy. This is caused by mutations in the dystrophin gene, which encodes the protein dystrophin. Some symptoms consistent with Becker muscular dystrophy are: Muscle weakness, slowly progressive difficulty walking Severe upper extremity muscle weakness. Toe-walking Use of Gower's Maneuver to get up from floor. Difficulty breathing Skeletal deformities, chest and back (scoliosis) Pseudohyperophy of calf muscles Muscle cramps Hea muscle problems Elevated Creatine kinase levels in blood
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