Rare neuromuscular diseases list

Below is a general overview of the characteristics of the neuromuscular diseases that affect children and teens. The disorders are grouped into six categories.

Muscular dystrophies (involving the structure of the muscle cells)

Becker (BMD) • Age of onset: 2 to 16 years
Characteristics: A milder, more slowly progressing form of Duchenne MD (see below).

Congenital (CMD) • Age of onset: birth
Characteristics: Generalized muscle weakness with possible joint deformities. Progresses very slowly.

Possible cognitive effects: Some of the most serious brain effects in neuromuscular diseases are found among people with CMD, although not everyone is affected. Children with structural brain abnormalities and those with seizures are most at risk for a wide range of problems, from learning disabilities, to vision and reading difficulties, to severe mental retardation.

Duchenne (DMD) • Age of onset: 2 to 6 years
Characteristics: General muscle weakness and wasting, beginning in upper arms and legs and eventually involving all voluntary muscles. DMD affects mainly boys but in rare cases may affect girls, who have a slower and less severe progression.

Boys in the primary grades may run more slowly, have trouble walking long distances, difficulty climbing stairs and getting up from the floor. By age 10, boys are likely to be using a wheelchair at least part time, and their arms are weakened. Around age 15, the arms, legs and torso all are affected and wheelchair use usually is full time. The student may need help writing and lifting, and may show early signs of respiratory and heart weakness.

Possible cognitive effects: About a third of children with DMD have some degree of learning disability, especially in three areas: attention focusing, verbal learning and memory, and emotional interaction. Sometimes this impairment is mistaken for attention deficit disorder. DMD sometimes causes children to have poor social skills, be emotionally distant and moody, or inappropriately impulsive and lacking good social boundaries.

Emery-Dreifuss (EDMD) • Age of onset: childhood to early teens
Characteristics: Weakness and wasting of shoulder, upper arm and shin muscles. Joint deformities are common, and heart complications can be serious.

Facioscapulohumeral (FSH or FSHD) • Age of onset: childhood to early adulthood
Characteristics: Childhood onset causes more severe symptoms than adult onset. Weakness and wasting affect face muscles, speech, eyelids, shoulders and upper arms. Progresses slowly with periods of rapid deterioration.

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