What is Werdnig Hoffman?

What is Werdnig Hoffman?

Werdnig-Hoffmann disease, which is also known as spinal muscular atrophy type 1 (SMA1) or acute spinal muscular atrophy, refers to individuals who have symptom onset prior to 6 months of age. SMA 2 patients will show symptoms prior to age 1 year, will sit but never walk.

Which signs and symptoms are associated with Werdnig-Hoffmann disease?

Symptoms include floppiness of the limbs and trunk, feeble movements of the arms and legs, swallowing and feeding difficulties, and impaired breathing. Infants with the gravest prognosis have problems sucking or swallowing. A twitching of the tongue often is seen. This is the most common and severe type of SMA.

What is sm1?

Spinal muscular atrophy type I (also called Werdnig-Hoffmann disease) is the most common form of the condition. It is a severe form of the disorder with muscle weakness evident at birth or within the first few months of life. Most affected children cannot control their head movements or sit unassisted.

When was SMA first diagnosed?

Spinal muscular atrophy (SMA), an inherited, progressive neuromuscular disease that can cause muscle atrophy1, was first discovered in infants in the early 1890’s by physicians Guido Werdnig and Johan Hoffman.

What causes Hoffman syndrome?

Hoffman’s disease is a rare form of hypothyroid myopathy in which because of deposition of connective tissue there is proximal weakness and pseudohypertrophy of muscles. It seems most likely that thyroid deficiency affects muscle cells directly. Primary hypothyroidism accounts for 95% of cases of thyroid insufficiency.

Is there a cure for Werdnig Hoffmann disease?

There is no cure for Werdnig-Hoffmann disease. Feeding difficulties: Children often have difficulty with feeding and can have nutritional deficiencies or aspiration pneumonia secondary to swallowing difficulty. Percutaneous endoscopic gastrostomy (PEG) tubes can help with nutritional supplementation.

What is the life expectancy of a child with SMA?

SMA Type 1 is a life-limiting condition. Though it is not possible to accurately predict, for the majority of children (approximately 95%) life expectancy is less than 18 months unless pharmacological treatment is introduced.

Do muscles atrophy?

Muscle atrophy is when muscles waste away. It’s usually caused by a lack of physical activity. When a disease or injury makes it difficult or impossible for you to move an arm or leg, the lack of mobility can result in muscle wasting.

Is Hoffman’s syndrome curable?

It mimicks myotonia on percussion, but myotonic discharges are not seen on EMG. The key point to stress is the fact that this is a treatable condition and patients with aforementioned conditions should be screened with simple thyroid profile before making the diagnosis of a more treatment resistant condition.

What symptoms are the Hoffmans experiencing?

Discussion: The characteristic features of Hoffman’s syndrome include localised or generalised hypertrophy of muscles in addition to muscle weakness, stiffness, cramps and pain as compared to the classic symptoms of hypothyroidism.

What is the life expectancy of spinal muscular atrophy?

Outlook / Prognosis Infants with type 1 SMA usually die before their second birthday. Children with type 2 or type 3 SMA may live full lives depending on the severity of symptoms. People who develop SMA during adulthood (type 4) often remain active and enjoy a normal life expectancy.

Does folic acid prevent SMA?

Penn Study Finds Signs Folic Acid And Vitamin B12 May Lessen Some Ill Effects Of SMA. Summary: Scientists have found evidence suggesting that the severity of spinal muscular atrophy (SMA) may be ameliorated by common vitamins.