Although rare, the signs and symptoms of Hoffman’s Syndrome, also known as Werdnig-Hoffmann Disease or spinal muscular atrophy type (SMA, are not to be taken for granted. The condition is quite serious and affects the muscular system, development of motor skills, respiratory system, and often, various other physical difficulties. While cognitive development remains normal, Hoffman’s Syndrome is often fatal in its severest forms. Unfortunately, the odds of survival may not be in the favor of those diagnosed as infants, however, those with less severe respiratory complications may live for many years.
Many patients diagnosed as adults may experience social anxiety, awkwardness, and depression due to the dramatic impact on their daily lives. Adolescents or youth with the condition may also encounter these type of episodes less frequently. However, their siblings are actually more prone due to the stress and responsibilities of coping and caring for the disabled child. While treatment for anxiety is unique to the individual and situation, counseling or ‘talk therapy’ is often advised over medications unless prescribed by a psychiatrist, neurologist, rehabilitative or primary care physician.
1. Proximal muscle weakness
The proximal muscles, those closer to the midsection of the body, are often weaker in patients diagnosed with SMA1 through SMA4. For instance, the hands and feet of a patient are often stronger than the upper arms or thigh regions. The distal muscles, those farther from the midsection, are less affected than others. The hands usually remain the strongest and although their strength may diminish, the patient is usually able to perform common daily functions.
2. Muscle cramps
Often adults diagnosed with SMA experience muscle weakness and higher levels of creatine kinase level, but sometimes encounter pseudohypertrophy or muscle enlargement. Also referred to as ‘false enlargement,’ the muscles actually become swollen due to deposits of fat, fibrous, and scar tissues. This abnormality occurs when the muscles are destroyed and replaced with fatty tissues.
3. Myxoedema on percussion
The accumulation of large proteins and carbohydrates (glycosaminoglycans) contributes to a thickening of the skin and around the organs; this condition is referred to as myxoedema. In these instances, patients have an abundance of type 1 fibers (slow-twitch) while the type 2 fibers (fast-twitch) are diminished. Patients with under-active thyroids (myxoedema or hypothyroidism) are subject to slow reactions, thoughts, and body functions. In youth, patients may also develop intellectual disabilities and stunted or delayed growth. At the infant stage, it may increase the likelihood of dwarfism. The condition also increases the waxy substance in blood plasma, commonly known as cholesterol.
4. Delay in deep tendon reflexes
Infants who are afflicted with SMA1 usually experience symmetrical, increased weakness among the proximal and lower limbs. The condition is hereditary and recessive, defined by the deterioration of the anterior grey column (anterior or ventral horn of the spinal column), or the location of the alpha motor neurons. Patients exhibit a noticeable absence of deep tendon reflexes, however, sensitivity in those regions does not diminish. Infants who demonstrate extreme weakness at birth through two months of age may never gain control of head motion; those who exhibit weakness after those stages may have the ability to control head motions and possibly sit independently.
5. Rare development of muscle hypertrophy
The development of muscles, or hypertrophy, is extremely rare but possible among SMA patients. In some cases, genetic mutations may contribute to hypertrophic type 2 muscle fibers. While quite uncommon, increased muscle without fatty deposits is possible and evident in the calf regions and lower extremities of some SMA3 patients. Elevated levels of serum creatine kinase (CK), an enzyme found in the brain, heart, and skeletal muscle, has been detected in many male SMA3 patients who experience hypertrophy. CK enzymes increase when the body experiences damage and inflammation to muscle cells (myositis), or muscle disorders (myopathies).
6. Myopathy
Myopathies, or diseases of the muscle tissues, occur when muscles fibers do not function normally. Predominantly affecting the immune system which defends the body against infection, myopathies cause the body to attack the blood vessels, connective tissue, organs, joints, and most evident, the muscle fibers. Patients who are diagnosed during the early stages of life often have the most debilitating muscle disorders, while patients whose symptoms present themselves much later in life experience much milder forms of SMA. Routine physical therapy often improves the prognosis for patients as it deters muscle atrophy and increases their range of motion.
