Genetics of Pediatric-Onset Motor Neuron and Neuromuscular Diseases

Diseases affecting the motor unit--which is composed of the motor neuron, its myelin sheath
and its innervated muscle fibers--are a diverse, heterogeneous group having heterogeneous
clinical presentations and genetic causes. Many of these disorders have a inherited
component. In some cases, the genetics underlying a given neuromuscular/motor neuron
disease, like spinal muscular atrophy (SMA) or Duchenne muscular dystrophy, are well
characterized. There are, however, disorders whose genetic basis has yet to be determined or
genetically characterized diseases which harbor novel mutations. The purpose of this genetic
registry is to catalogue early-onset motor neuron and neuromuscular disorders and to
determine their genetic bases. With samples obtained from this registry, the investigators
will be able to provide a genetic diagnosis for a specific neuromuscular/motor neuron
disease which will lead to better care for those patients affected by these diseases.

Many of these disorders have a wide spectrum of phenotypic variability. For example, the
severity of SMA is quite variable even though it is caused by the loss of a single gene,
i.e. survival motor neuron 1 (SMN1). The number of copies of the duplicated gene survival
motor neuron 2 (SMN2) dictates phenotypic severity in SMA. In this study, the research team
will also identify potential modifiers of phenotypic severity for specific disorders like
SMA and Charcot-Marie-Tooth (CMT) disease. With the identification of novel modifier genes,
the investigators will be able to more accurately predict disease outcomes and the
investigators will also have novel targets for the development of therapeutic agents for
these diseases.

Inclusion Criteria:

- Diagnosis of motor neuron/neuromuscular disease confirmed by neurologist

Exclusion Criteria:

- not seen by one of the study investigators