What are the symptoms of Pelizaeus-Merzbacher Disease and Spastic Paraplegia Type II?
As mentioned above, this spectrum encompasses several disorders with varying degrees of severity. These are connatal PMD, classic PMD, complicated SPG2, and pure SPG2. Each is addressed separately below. Connatal PMD Connatal PMD is the most severe of this spectrum of disorders. Patients show a delayed development and severe neurological symptoms. Patients may have feeding problems, difficulties with breathing, and the prominent muscle spasms often lead to difficulties in patient care. Seizures may be present. Death usually occurs within the first decade of life. Symptoms are present at birth, and may include many of the following: Nystagmus: involuntary movements of the eyes Hypotonia: lack of muscle tone Ataxia: disturbance of gait (walking) or coordination Severe spasticity: tendency to have involuntary muscle contraction Stridor: a harsh vibrating sound heard during respiration when the air passage is blocked Pharyngeal weakness: the pharynx is the voice box; pharyngeal weakness th
