ORPHA:431272 Synonym(s): X-linked SPMD X-linked scapuloperoneal syndrome Prevalence: Inheritance: X-linked dominant Age of onset: Adult ICD-10: G71.0 OMIM: 300695 UMLS: - MeSH: - GARD: - MedDRA: - The documents contained in this web site are presented [orpha.net]

but may present in infancy with clinical features overlapping with mild forms of α-dystroglycanopathy Clinical sensitivity Mutation detection rate for CMDs in general ranges from 20% to 46%. [invitae.com]

Weakness of the neck flexors is seen in most affected individuals and mild facial weakness is often present. After distal weakness has been present for more than ten years, mild proximal weakness may be observed. Life expectancy is normal. [ncbi.nlm.nih.gov]

OF ONE MITOCHONDRIAL DISEASE PATIENT (P&S Industry Clinical Trial) Nov 16 2009 - Nov 16 2014 DEVELOPMENT OF A MITOCHONDRIAL DISEASE PATIENT REGISTRY (Private) Nov 1 2012 - Oct 31 2014 MELTIMI STUDY(EVALUATION OF INDEBENONE TREATMENT IN PATIENTS WITH [columbianeurology.org]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Références bibliographiques Arbogast S, Beuvin M, Fraysse B, et al. (2007) Oxydative stress in SEP N1-related myopathy:from pathophysiology to treatment. [link.springer.com]

There is no treatment for spinal rigidity. Surveillance After establishing the diagnosis (see Evaluations Following Initial Diagnosis ) and instituting the indicated therapies (see Treatment of Manifestations ), annual review is recommended. [ncbi.nlm.nih.gov]

Références bibliographiques Arbogast S, Beuvin M, Fraysse B, et al. (2007) Oxydative stress in SEP N1-related myopathy:from pathophysiology to treatment. [link.springer.com]

Treatment of manifestations: Physiotherapy to prevent or treat tightening of the tendo Achilles is helpful. In more advanced cases, lightweight splinting of the ankle (e.g., with an ankle-foot orthosis) can be useful. [ncbi.nlm.nih.gov]