Compassionate Allowance Diseases: Sandhoff Disease


The Social Security Administration established the Compassionate Allowances program in an attempt to expedite cases where individuals have medical conditions that are very severe and would qualify under one of the listings. However, not all diseases are met under a specific listing, but still may be approved under the CAL.

Sandhoff disease is a rare inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord.[1] There is no cure for Sandhoff disease.  Treatment includes supportive care for symptoms, such as medications to control seizures and nutritional and respiratory support.[2] Onset of this disease can occur at any age. Adult/Late-onset Sandhoff disease typically presents in adolescence or adulthood, and symptoms may include: Progressive muscle weakness, clumsiness and gait disturbances, speech and swallowing difficulties, urinary incontinence, and psychosis.[3]

Sandhoff disease may be evaluated under Listing 110.08B under catastrophic congenital abnormality or disease. SSA suggests genetic testing for a mutation in the HEXB gene, and a clinical description of the physical and developmental features for approval.[4] If definitive genetic testing is not available, the results of other laboratory studies such as enzyme assays, molecular cell analysis, and tissue biopsy can be substituted.[5]

 

[1] https://ghr.nlm.nih.gov/condition/sandhoff-disease

[2] Bley AE, et al. Natural History of Infantile GM2 Gangliosidosis. Pediatrics 2011;128;e1233

[3] Delnooz, CCS et al. New cases of adult-onset Sandhoff disease with a cerebellar or lower motor neuron phenotype. J Neurol Neurosurg Psychiatry. 2010; 81:968-972

[4] https://secure.ssa.gov/apps10/poms.nsf/lnx/0423022295

[5] Id.

Written by Hoglund Law

The attorneys of Hoglund law are licensed in Minnesota, Wisconsin and Ohio. Hoglund, Chwialkowski & Mrozik, PLLC is based in Roseville, Minnesota. In addition to handling cases involving bankruptcy & social security, Hoglund, Chwialkowski & Mrozik, PLLC handles faulty drugs and toxic exposure.

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