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The patient has a nonprogressive injury to his brain, and he will likely require multiple orthopaedic surgeries in the future as a result of muscle imbalance
8%
284/3522
The patient has an absent dystrophin protein and will likely require a wheelchair by the age of 15 and will die of cardiorespiratory problems by the age of 20
16%
548/3522
The child will have a progressive loss of alpha-motor neurons in anterior horn of spinal cord. He will have difficulty walking, but will be able to sit independently and will likely live into the fifth decade of life
571/3522
The child will have a progressive loss of alpha-motor neurons in anterior horn of spinal cord and will unlikely live past the age of two
58%
2048/3522
The child will likely go on to develop a cavus foot and hammer toes, but he should live a full healthy life
1%
35/3522
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The clinical presentation is consistent with spinal muscular atrophy (SMA) type 1. It is caused by progressive loss of alpha-motor neurons in the anterior horn of the spinal cord, and the patient will likely die by the age of two. Spinal muscular atrophy is an autosomal recessive disease leading to a mutation in the survival motor neuron (SMN) gene in 90% of cases. This mutation leads to a lack of the SMN-I protein. Patients present with progressive symmetric weakness that is more profound in the lower extremities, and more profound proximally. Spinal muscular atrophy is classified into three types: Type I, Acute Werdnig-Hoffman disease, presents in patients less than 6 months of age and is characterized by absent DTR and tongue fasciculations. Patients have a poor prognosis and usually die by the age of 2. Type II, Chronic Werdnig-Hoffman disease, presents at 6-12 months of age. Patients can sit, but cannot walk. They also may have absent DTR and tongue fasciculations. The prognosis is slightly better with patients living into the 5th decade. Type III, Kugelberg-Welander disease, often does not present until the patient is between the ages of 2 and 15 years. Children are often able to walk, but they may need a wheel chair as they age. Patients can have a normal life expectancy with this type. Mesfin et al. published a review of SMA including orthopaedic manifestations and treatment options. Common orthopaedic issues include scoliosis with a prevalence between 60%-95% and hip subluxation/dislocation with a prevalence of 62% in type 2 and 29% in type 3. Scoliosis is often refractory to conservative care and may require growing rods in young children with progressive curves, or instrumented posterior spinal fusions in older patients. Incorrect Answers: Answer 1: This answer would be correct for a patient with cerebral palsy. Answer 2: This answer would be correct for a patient with Duchenne Muscular Dystrophy. Answer 3: This answer would be correct for a patient with SMA type 2. Answer 5: This answer would be correct for a patient with Charcot Marie Tooth/ peroneal muscular atrophy.
4.1
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