
in a few patients with CFTD. The present report of TPM3 mutations involving 11 cases in 5 families is the largest series to date. Affected patients present with hypotonia before the first birthdate and show a slow progression of proximal muscle weakness, kyphoscoliosis, and respiratory insufficiency, but most remain ambulant and survive to adulthood. DIAGNOSTIC (Rifai Z et al. Neurology 1993; 43:2372 -2377 .

Defining the genetic basis of these diseases will explain their heterogeneous clinical manifestations anu lead to improvements in family counseling.
MOVEMENT DISORDERS

DOPA-RESPONSIVE DYSTONIA WITH DELAY IN WALKING
A 2-year, 8-month old boy with a previous diagnosis of cerebral palsy was referred to UCSF because of "awkward" gait and "walking on the toes." His gait abnormality progressed, worsening in the evening, and he was found to have a dopa-responsive dystonia caused by an autosomal-dominant GCH1 mutation. He was treated successfully with oral carbadopa-levodopa (Sinemet). Three other family members were affected, presenting with stiffness in the thighs, motor impairment, speech and swallowing difficulties, postural tremor and depressive anxiety, also responsive to carbadopa-levodopa. (Cheyette BNR et al. Pediatr Neurol April 2008; 38:273-275) .

{'paper_id': '73399089', 'title': 'Diagnostic Approach to Neonatal Hypotonia', 's2_url': 'https://api.semanticscholar.org/CorpusID:73399089', 'source': 'S2ORC'}