PROXIMAL HEREDITARY MOTOR NEUROPATHY TYPE I
\pɹˈɒksɪmə͡l hɪɹˈɛdɪtəɹi mˈə͡ʊtə njuːɹˈɒpəθɪ tˈa͡ɪp ˈa͡ɪ], \pɹˈɒksɪməl hɪɹˈɛdɪtəɹi mˈəʊtə njuːɹˈɒpəθɪ tˈaɪp ˈaɪ], \p_ɹ_ˈɒ_k_s_ɪ_m_əl h_ɪ_ɹ_ˈɛ_d_ɪ_t_ə_ɹ_i m_ˈəʊ_t_ə n_j_uː_ɹ_ˈɒ_p_ə_θ_ɪ t_ˈaɪ_p ˈaɪ]\
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A group of recessively inherited diseases that feature progressive muscular atrophy and hypotonia. They are classified as type I (Werdnig-Hoffman disease), type II (intermediate form), and type III (Kugelberg-Welander disease). Type I is fatal in infancy, type II has a late infantile onset and is associated with survival into the second or third decade. Type III has its onset in childhood, and is slowly progressive. (J Med Genet 1996 Apr:33 (4):281-3)
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Nearby Words
- proximal bulb
- proximal contact, proximate contact
- proximal convoluted tubule
- proximal gastric vagotomies
- proximal gastric vagotomy
- Proximal Hereditary Motor Neuropathy Type I
- proximal humeral fracture
- proximal humeral fractures
- proximal median neuropathies
- proximal median neuropathy
- proximal myotonic myopathies