These findings indicate that a neurogenic lesion affecting at least the peripheral sensory system is present at an early stage of Welander's distal myopathy and that the neurogenic lesion might precede the myopathic changes. [jnnp.bmj.com]

Fibrillations and complex repetitive discharges are often, but not invariably, present. Muscle magnetic resonance imaging shows considerable involvement of posterior calf muscles besides fatty degenerative changes in the anterior compartment. [rarediseases.info.nih.gov]

SUMMARY Distal myopathies are uncommon diseases presenting difficulties in the classification by the lack of sufficient knowledge on pathogenesis. [scielo.br]

WES and targeted next generation sequencing panels are powerful clinical tools when investigating patients with confounding clinical presentations. [journals.lww.com]

Quadriceps sparing Nocturnal non-invasive ventilatory support Respiratory failure VC & FEV1 < 75% of predicted in most patients at presentation Course: Progressive Muscle hypertrophy: Posterior leg (Calf) Contractures: None Cardiac Conduction Δ (32%) [neuromuscular.wustl.edu]

• Difficulty Walking

  By the mid seventies, some individuals may have involvement of the upper legs muscles (proximal muscles) and may experience mild to moderate difficulty walking. [rarediseases.org]

• Wheelchair Bound

  Homozygotes exhibit earlier onset, faster progression, and patients become wheelchair-bound by the age of 50 years. Last updated: 12/1/2019 [rarediseases.info.nih.gov]

• Short Stature

  French-Canadians: 57-kb deletion CTNS protein Lysosomal membrane Clinical Frequency 41 30% to 40% of patients with cystinosis Similar frequency in patients with & without cysteamine treatment Onset Age: 1st year to Adult Failure to thrive: 1st year Skeletal Short [neuromuscular.wustl.edu]

• Foot Drop

  Foot drop and wrist weakness may be helped by orthoses. Prognosis The progression is benign and life expectancy is normal although the fine motor hand skills are usually lost. [rarediseases.info.nih.gov]

  drop Hypotonia Weakness: Intrafamilial variation Legs Ankle dorsiflexion: Often severe with foot drop Hanging big toe Proximal muscles: Later in disease course Neck: Sternocleidomastoids & Neck flexors Arms Extensors: Finger (esp 5th) & Wrist Onset age [neuromuscular.wustl.edu]

  Eventually the long extensors of the toes may become involved resulting in clumsiness and an inability to turn the feet and toes upward (foot drop), which may make it difficult to pick up the front of the foot when walking. [rarediseases.org]

Management and treatment Management is mainly symptomatic and includes the help of an occupational and a physical therapists and practical tools for finger and hand weakness. Foot drop and wrist weakness may be helped by orthoses. [rarediseases.info.nih.gov]

Standard Therapies Treatment No cure exists for the distal myopathies. Treatment is aimed at the specific symptoms present in each individual. [rarediseases.org]

[…] associated with frontotemporal dementia and amyotrophic lateral sclerosis, which have a poor prognosis and can have life-altering effects on patients.10,11 The identification of possible genetic causes of disease is very important for determining future treatments [journals.lww.com]

1st year Skeletal Short stature Frontal bossing Hypophosphatemic rickets Contractures (15%): Hands Eyes: Retinopathy; Corneal cysteine crystals GI: Not frequent Hepatomegaly; Pancreatic insufficiency; Splenomegaly GI complaints related to Cysteamine treatment [neuromuscular.wustl.edu]

Prognosis The progression is benign and life expectancy is normal although the fine motor hand skills are usually lost. Homozygotes exhibit earlier onset, faster progression, and patients become wheelchair-bound by the age of 50 years. [rarediseases.info.nih.gov]

[…] should be exercised when diagnosing and treating patients without establishing the molecular genetic cause, as valosin-containing protein–related disorders are associated with frontotemporal dementia and amyotrophic lateral sclerosis, which have a poor prognosis [journals.lww.com]

Etiology WDM is caused by a missense change (c.1362G>A; p.E384K) in TIA1gene (2p13) which encodes nucleolysin TIA1 isoform p40, a key component of stress granules (SGs). [rarediseases.info.nih.gov]

Genetics GNE protein Clinical Laboratory Muscle Pathology Variant from M Sadeh HIBM2: Quadriceps sparing CT of thigh Nosology: Same disorder as GNE myopathy Nonaka distal myopathy IBM2 Epidemiology Iranian-Jewish families: Prevalence in Jews of Persian [neuromuscular.wustl.edu]

Epidemiology Distal myopathy, Welander type (WDM) prevalence is unknown. [rarediseases.info.nih.gov]

This can prevent delayed diagnosis and reduce the amount of unnecessary tests and examinations, as with our patient. [journals.lww.com]