Myopathy, and Falls

Diseases related with Myopathy and Falls

In the following list you will find some of the most common rare diseases related to Myopathy and Falls that can help you solving undiagnosed cases.


Top matches:

High match CONGENITAL MYOPATHY WITH INTERNAL NUCLEI AND ATYPICAL CORES


Congenital myopathy with internal nuclei and atypical cores is a rare genetic skeletal muscle disease characterized by neonatal hypotonia, distal more than proximal muscle weakness, progressive exercise intolerance with prominent myalgias, and mild-to-moderate overall motor impairment with preserved ambulation. Face, extraocular, cardiac, and respiratory muscles are unaffected. Mild cognitive impairment is also noted in most patients.

CONGENITAL MYOPATHY WITH INTERNAL NUCLEI AND ATYPICAL CORES Is also known as cnm4|centronuclear myopathy type 4

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Cognitive impairment
  • Fatigue
  • Myopathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL MYOPATHY WITH INTERNAL NUCLEI AND ATYPICAL CORES

High match NEMALINE MYOPATHY 6; NEM6


Nemaline myopathy-6 is an autosomal dominant skeletal muscle disorder characterized by childhood onset of slowly progressive proximal muscle weakness, exercise intolerance, and slow movements with stiff muscles. Patients are unable to run or correct themselves from falling over. Histopathologic changes seen on skeletal muscle biopsy include nemaline rods, cores devoid of oxidative enzyme activity, and predominance of hypertrophic type 1 fibers. There is no cardiac or respiratory involvement (summary by Sambuughin et al., 2010).

Related symptoms:

  • Muscle weakness
  • Peripheral neuropathy
  • Gait disturbance
  • Dysphagia
  • Myopathy


SOURCES: MESH OMIM MENDELIAN

More info about NEMALINE MYOPATHY 6; NEM6

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Other less relevant matches:

High match CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC; CMT2CC


Axonal Charcot-Marie-Tooth disease type 2CC is an autosomal dominant peripheral neuropathy that predominantly affects the lower limbs, resulting in muscle weakness and atrophy and gait impairment. Other features include distal sensory impairment and less severe involvement of the upper limbs. The age at onset and severity are variable (summary by Rebelo et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT type 2, see CMT2A (OMIM ).

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC; CMT2CC Is also known as charcot-marie-tooth neuropathy, type 2cc

Related symptoms:

  • Muscle weakness
  • Peripheral neuropathy
  • Gait disturbance
  • Myopathy
  • Hyporeflexia


SOURCES: OMIM MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC; CMT2CC

High match REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET; RBMX1A


Reducing-body myopathy (RBM) is a rare myopathy characterized pathologically by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase (MAG) in the absence of substrate, alpha-glycerophosphate. The term 'reducing body' refers to the reducing activity of the inclusions to nitroblue tetrazolium (NBT) in the absence of substrate. This condition is also commonly associated with rimmed vacuoles and cytoplasmic bodies. The clinical features of RBM are variable; a severe form has onset in infancy or early childhood and results in severe disability or early death, and a less severe form has onset in late childhood or adulthood (RBMX1B ) (summary by Liewluck et al., 2007 and Shalaby et al., 2009).

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Flexion contracture
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET; RBMX1A

High match REDUCING BODY MYOPATHY


Reducing body myopathy (RBM) is a rare muscle disorder marked by progressive muscle weakness and the presence of characteristic inclusion bodies in affected muscle fibres.

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • Flexion contracture
  • Short neck
  • Respiratory insufficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about REDUCING BODY MYOPATHY

High match NEMALINE MYOPATHY 7; NEM7


Nemaline myopathy-7 is an autosomal recessive congenital myopathy characterized by very early onset of hypotonia and delayed motor development. Affected individuals have difficulty walking and running due to proximal muscle weakness. The disorder is slowly progressive, and patients may lose independent ambulation. Muscle biopsy shows nemaline rods and may later show minicores, abnormal protein aggregates, and dystrophic changes (summary by Ockeloen et al., 2012).For a discussion of genetic heterogeneity of nemaline myopathy, see {161800}.

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Muscular hypotonia
  • High palate
  • Motor delay


SOURCES: MESH OMIM MENDELIAN

More info about NEMALINE MYOPATHY 7; NEM7

High match TUBULAR AGGREGATE MYOPATHY


Related symptoms:

  • Intellectual disability
  • Muscle weakness
  • Ptosis
  • Flexion contracture
  • Visual impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about TUBULAR AGGREGATE MYOPATHY

High match LAING EARLY-ONSET DISTAL MYOPATHY


Laing distal myopathy, also called myopathy distal, type 1 (MPD1), is characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, and a very slowly progressive course.

LAING EARLY-ONSET DISTAL MYOPATHY Is also known as distal myopathy type 1|mpd1|gowers disease|myopathy, distal, swedish|muscular dystrophy, distal, late-onset, autosomal dominant

Related symptoms:

  • Muscle weakness
  • Myopathy
  • Proximal muscle weakness
  • Distal muscle weakness
  • Muscular dystrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about LAING EARLY-ONSET DISTAL MYOPATHY

High match MYOPATHY, TUBULAR AGGREGATE, 1; TAM1


Tubular aggregates in muscle, first described by Engel (1964), are structures of variable appearance consisting of an outer tubule containing either one or more microtubule-like structures or amorphous material. They are a nonspecific pathologic finding that may occur in a variety of circumstances, including alcohol- and drug-induced myopathies, exercise-induced cramps or muscle weakness, and inherited myopathies. Tubular aggregates are derived from the sarcoplasmic reticulum (Salviati et al., 1985) and are believed to represent an adaptive mechanism aimed at regulating an increased intracellular level of calcium in order to prevent the muscle fibers from hypercontraction and necrosis (Martin et al., 1997; Muller et al., 2001). Genetic Heterogeneity of Tubular Aggregate MyopathySee also TAM2 (OMIM ), caused by mutation in the ORAI1 gene (OMIM ) on chromosome 12q24.

MYOPATHY, TUBULAR AGGREGATE, 1; TAM1 Is also known as tubular aggregate myopathy|myopathy, tubular aggregate|tam

Related symptoms:

  • Muscle weakness
  • Ptosis
  • Flexion contracture
  • Dysarthria
  • Fatigue


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, TUBULAR AGGREGATE, 1; TAM1

Top 5 symptoms//phenotypes associated to Myopathy and Falls

Symptoms // Phenotype % cases
Muscle weakness Very Common - Between 80% and 100% cases
Proximal muscle weakness Common - Between 50% and 80% cases
Frequent falls Common - Between 50% and 80% cases
Elevated serum creatine phosphokinase Uncommon - Between 30% and 50% cases
Gowers sign Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Myopathy and Falls. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Increased variability in muscle fiber diameter Progressive muscle weakness Lower limb muscle weakness Rimmed vacuoles Distal muscle weakness Gait disturbance Flexion contracture Respiratory insufficiency Areflexia Neck muscle weakness Respiratory insufficiency due to muscle weakness Spinal rigidity Foot dorsiflexor weakness Hyporeflexia Generalized hypotonia Myalgia Centrally nucleated skeletal muscle fibers Limb muscle weakness

Rare Symptoms - Less than 30% cases


Difficulty running Facial palsy Motor delay Peripheral neuropathy Respiratory failure Rigidity Fatigue Type 2 muscle fiber atrophy Abnormal pupil morphology Areflexia of lower limbs Progressive proximal muscle weakness Muscle cramps Ophthalmoplegia Ptosis Scoliosis Clumsiness Nemaline bodies Muscle stiffness Sensory impairment Waddling gait Difficulty climbing stairs Difficulty walking Nyctalopia Fatiguable weakness of proximal limb muscles Limb-girdle muscle weakness Miosis Exercise-induced myalgia Achilles tendon contracture Ankle contracture Fatigable weakness EMG: myopathic abnormalities Hypocalcemia Generalized muscle weakness Hyporeflexia of lower limbs Muscle fiber tubular inclusions Distal amyotrophy Muscular dystrophy Dysarthria Proximal amyotrophy Ophthalmoparesis Small hand Easy fatigability External ophthalmoplegia Fasciculations Limb-girdle muscular dystrophy Myotonia Steppage gait Mildly elevated creatine phosphokinase Elbow flexion contracture Autophagic vacuoles Visual impairment Cognitive impairment Intellectual disability Ragged-red muscle fibers Upper limb muscle weakness EMG: neuropathic changes Bradykinesia Sensory axonal neuropathy Impaired vibratory sensation Pyloric stenosis Sensorimotor neuropathy Lower limb amyotrophy Distal sensory impairment Peripheral axonal neuropathy Pes cavus Babinski sign Exercise intolerance Neck flexor weakness Muscle fiber splitting Upper limb amyotrophy Minicore myopathy Lumbar hyperlordosis Myofibrillar myopathy Delayed gross motor development Joint hypermobility Kyphoscoliosis High palate Muscular hypotonia Dilated cardiomyopathy Dysphagia Hyperlordosis Kyphosis Cardiomyopathy Short neck Neonatal hypotonia Poor head control Weakness of the intrinsic hand muscles



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