Symptoma

Scapuloperoneal Myopathy

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]

  • Pathologist

    PMID: 21078917 Assay Assay and technical information Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion [invitae.com]

  • Foot Drop

    Charcot-Marie-Tooth Hereditary Neuropathy also commonly features foot drop and thus may be considered in the differential diagnosis. [ncbi.nlm.nih.gov]

  • Action Tremor

    Weakness of the finger extensors is often accompanied by a postural and action tremor of the hands. Figure 2. Individual with Laing distal myopathy attempting to extend her second to fifth fingers. [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]

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]

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]