Neutral lipid storage disease with myopathy
ORPHA:98908DiseaseAutosomal recessiveAdult
Ассоциированные гены1
Фенотипы (HPO)39
Очень частый (80–99%)4
HP:0003547Shoulder girdle muscle weakness
HP:0009073Progressive proximal muscle weakness
HP:0012240Increased intramyocellular lipid droplets
HP:0012548Fatty replacement of skeletal muscle
Частый (30–79%)17
HP:0001288Gait disturbance
HP:0001270Motor delay
HP:0001290Generalized hypotonia
HP:0001397Hepatic steatosis
HP:0001638Cardiomyopathy
HP:0002155Hypertriglyceridemia
HP:0002380Fasciculations
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0003198Myopathy
HP:0003326Myalgia
HP:0003388Easy fatigability
HP:0003391Gowers sign
HP:0003749Pelvic girdle muscle weakness
HP:0008167Very long chain fatty acid accumulation
HP:0009046Difficulty running
HP:0025435Increased circulating lactate dehydrogenase concentration
HP:0040081Abnormal circulating creatine kinase concentration
Периодический (5–29%)14
HP:0000407Sensorineural hearing impairment
HP:0000467Neck muscle weakness
HP:0000819Diabetes mellitus
HP:0001256Intellectual disability, mild
HP:0001284Areflexia
HP:0001635Congestive heart failure
HP:0002240Hepatomegaly
HP:0003805Rimmed vacuoles
HP:0004322Short stature
HP:0006280Chronic pancreatitis
HP:0009027Foot dorsiflexor weakness
HP:0009055Generalized limb muscle atrophy
HP:0009063Progressive distal muscle weakness
HP:0030237Hand muscle weakness
Очень редкий (1–4%)2
HP:0001082Cholecystitis
HP:0012683Pineal cyst
Исключён (0%)2
HP:0001513Obesity
HP:0008064Ichthyosis
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 36 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)