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Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy (SMA-PME) is an ultra-rare, degenerative genetic disorder caused by mutations in the ASAH1 gene, which encodes the enzyme acid ceramidase.

When this enzyme is deficient, ceramides accumulate in the body — causing chronic inflammation, progressive damage to joints, nerves, and vital organs. The disease typically appears in early childhood and follows a relentlessly progressive course.

SMA-PME shares its molecular origin with Farber disease. Both stem from ASAH1 mutations and acid ceramidase deficiency — ASAH1 mutations typically reduce enzyme levels to below 30% of normal function, causing ceramides to accumulate in the body's lysosomes (cellular waste disposal compartments). Only a few dozen SMA-PME cases have been reported worldwide; Farber disease has approximately 200 documented cases. The primary barrier to research remains funding scarcity — medical research prioritizes conditions affecting larger populations.

Currently, no FDA-approved cure exists. Treatment options include anti-inflammatory medications, physical therapy, seizure management, and in some cases bone marrow or stem cell transplants — but none halt the underlying disease progression.