Spinal Muscular Atrophies (SMA) in children are a group of three inheritable neuromuscular conditions in which there is degeneration of the anterior horn cells of the spinal cord with resultant muscular weakness, usually symmetrical. Characteristically, the legs are more severely affected than the arms. Additionally the proximal muscles are more severely affected than the distal ones. Distinct clinical syndromes can be defined on the basis of the severity of the symptoms displayed. An international classification was agreed in 1990 as follows:

Severe SMA - unable to sit unsupported (also known as Werdnig-Hoffman disease or Type 1)

Intermediate SMA - able to sit unsupported, unable to stand or walk unaided (Type 2)

Mild SMA - able to stand and walk unaided (also known as Kugelberg Welander disease or Type 3)

Inheritance Patterns:   Autosomal recessive inheritance

Pre-Natal Diagnosis: The gene for all childhood onset Spinal Muscular Atrophies has been mapped to the 5th chromosome. Pre-natal diagnosis by chorionic villus sampling is currently available and is already informative in over 90% of families.

Further information available from:

Jennifer Trust for Spinal Muscular Atrophy,
Elta house
Birmingham road
Stratford-upon-Avon
CV37 AQ
(Tel: 01789 267520   Fax: 01789 268371)

e-mail: jennifer@jtsma.demon.co.uk

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The Jennifer Trust for Spinal Muscular Atrophy is a Registered Charity No. 327669 founded in 1985. It was established by a mother of a baby with severe SMA to support others in similar circumstances. It offers:

• Support through contact with other families.
• Help with the provision of mobility aids, seating, bathing chairs and suction machines for babies.

Activities:

• Area fun days
• Christmas Party
• Annual conference weekend in September

There are over 1000 members