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Rarer Forms of SMA

Rarer Forms of SMA

SMA is the name given to a number of genetically distinct conditions which all result in muscle weakness, but there’s a great variation in the severity and impact they have. The more common forms of SMA are broadly known as 5q SMA (Types 1, 2, 3 and 4).

This sections brings together the information is available about some other rarer forms of SMA. For some of these, the information is very limited.

The Inheritance Patterns of Some Rarer Forms of SMA

This guide tells you how genetic conditions are inherited and identifies the different inheritance patterns for the rarer forms of SMA (see below). It includes information about the chances of children being affected.

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Distal Spinal Muscular Atrophy type V (DSMA-V)

This information, for if you or your child have recently been diagnosed, summarises the very limited information there is about this condition. There are links to further possible information.

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Spinal and Bulbar Muscular Atrophy (SBMA) – Kennedy’s Disease

This is an adult onset form of SMA. This information, for if you have recently been diagnosed, gives some information about the condition with further links to information and sources of support.

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SMA with Lower Extremity Predominance (SMA-LED)

This information, for if you / your child has recently been diagnosed, summarises the very limited information there is about this condition with links for further possible information.

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SMA with Progressive Myoclonic Epilepsy (SMA-PME)

This information, for if your child has recently been diagnosed, summarises the limited information there is about this childhood condition and has links to further possible information.

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Spinal Muscular Atrophy with Respiratory Distress 1 (SMARD1)

This is a childhood onset form of SMA. Here you can find information for if your child has recently been diagnosed; families’ experiences of when their child has been diagnosed with SMARD1.

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X-Linked Spinal Muscular Atrophy

This information, for if your child has recently been diagnosed, summarises the very limited information there is about this very rare childhood condition, and has links to further possible information.

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Research into some Rarer Forms of Spinal Muscular Atrophy

This is very limited due to the small numbers of individuals affected by these conditions. No drug treatments have so far been approved for any. This section gives an overview of research in three types of non-5q SMA.

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